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1. Psoriasis-related treatment exposure and hospitalization or in-hospital mortality due to COVID-19 during the first and second wave of the pandemic: cohort study of 1 326 312 patients in France

Author: Mahmoud Zureik, Rosemary Dray-Spira, Emilie Sbidian, L Penso, Alain Weill, Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), EPI-PHARE (EPI-PHARE), Caisse nationale d'assurance maladie des travailleurs salariés [CNAMTS]-Agence nationale de sécurité du médicament et des produits de santé [Saint-Denis] (ANSM), Caisse Nationale d'Assurance Maladie des Travailleurs salariés (CNAMTS), Ministère de l'économie et des finances, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Agence Nationale de Sécurité du Médicament et des Produits de Santé, ANSM, sources L.P. received a doctoral grant from the French National Agency for Drug and Health Product Safety (ANSM). No other funding is declared.The authors are indebted to Laura Smales for English editing., and HAL UVSQ, Équipe
Subjects: Adult, Male, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Epidemiology, [SDV]Life Sciences [q-bio], Dermatology, Cohort Studies, Psoriasis, Internal medicine, Pandemic, medicine, Clinical endpoint, Humans, Hospital Mortality, Pandemics, SARS-CoV-2, business.industry, Proportional hazards model, Hazard ratio, COVID-19, Middle Aged, medicine.disease, Confidence interval, [SDV] Life Sciences [q-bio], Hospitalization, Commentary, France, business, Cohort study
Abstract: Summary Background Data on treatment exposures for psoriasis and poor COVID‐19 outcomes are limited. Objectives To assess the risk of hospitalization or in‐hospital mortality due to COVID‐19 by treatment exposure in patients with psoriasis. Methods All adults with psoriasis registered in the French national health‐insurance (Système National des Données de Santé, SNDS) database between 2008 and 2019 were eligible. Two study periods were considered: 15 February to 30 June 2020 and 1 October 2020 to 31 January 2021, the first and second waves of the COVID‐19 pandemic in France, respectively. Patients were classified according to their baseline treatment: biologics, nonbiologics, topicals or no treatment. The primary endpoint was hospitalization for COVID‐19 using Cox models with inverse probability of treatment weighting. The secondary endpoint was in‐hospital mortality due to COVID‐19. Results We identified 1 326 312 patients with psoriasis (mean age 59 years; males, 48%). During the first study period, 3871 patients were hospitalized for COVID‐19 and 759 (20%) died; during the second period 3603 were hospitalized for COVID‐19 and 686 (19%) died. In the propensity score‐weighted Cox models, risk of hospitalization for COVID‐19 was associated with exposure to topicals or nonbiologics [hazard ratio (95% confidence interval): 1·11 (1·04–1·20) and 1·27 (1·09–1·48), respectively] during the first period, and with all exposure types, during the second period. None of the exposure types was associated with in‐hospital mortality due to COVID‐19. Conclusions Systemic treatments for psoriasis (including biologics) were not associated with increased risk of in‐hospital mortality due to COVID‐19. These results support maintaining systemic treatment for psoriasis during the pandemic., What is already known about this topic? Almost all chronic diseases have emerged as risk factors for hospitalization for COVID‐19 and poor COVID‐19 outcomes.Multimorbidity is frequent in psoriasis. In France, psoriasis was found to be associated with increased risk of hospitalization for COVID‐19 but not in‐hospital mortality due to COVID‐19.Biologics are associated with an increased risk of infection. Few data have been published on the course of COVID‐19 in patients with psoriasis receiving biologics. What does this study add? Systemic treatments for psoriasis (including nonbiologics and biologics) were not associated with an increased risk of in‐hospital mortality due to COVID‐19.Our results did not support a prophylactic effect of long‐term use of biologics on risk of hospitalization for COVID‐19 or in‐hospital mortality.These results provide evidence supporting the continuity of care for psoriasis and maintaining systemic treatment for psoriasis during the pandemic.
Published: 2022

2. Factors associated with perceived stress in patients with vitiligo in the ComPaRe e-cohort

Author: Viet-Thi Tran, Philippe Ravaud, J. Shourick, Morgane Condamina, Isabelle Pane, N. Andreu, Emilie Sbidian, Khaled Ezzedine, Julien Seneschal, Centre Hospitalier Universitaire de Reims (CHU Reims), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Service de dermatologie Hôpital Saint-André Bordeaux, CHU Bordeaux [Bordeaux], EPI-PHARE (EPI-PHARE), Caisse nationale d'assurance maladie des travailleurs salariés [CNAMTS]-Agence nationale de sécurité du médicament et des produits de santé [Saint-Denis] (ANSM), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Hôtel-Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôtel-Dieu, Hôpital Henri Mondor, and HESAM Université (HESAM)-HESAM Université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: Hypopigmentation, medicine.medical_specialty, business.industry, Vitiligo, Dermatology, medicine.disease, Cohort Studies, Oxidative Stress, Internal medicine, Stress (linguistics), Cohort, Humans, Medicine, In patient, business, Stress, Psychological, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: International audience
Published: 2022

3. Factors associated with remission at 5-year follow-up in recent-onset axial spondyloarthritis: results from the DESIR cohort

Author: Philippe Le Corvoisier, Salah Ferkal, Daniel Wendling, Philippe Goupille, Bijan Ghaleh, Emilie Sbidian, Laura Pina Vegas, Pascal Claudepierre, Alain Luciani, Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de rhumatologie [CHU Henri Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, EPI-PHARE (EPI-PHARE), Caisse nationale d'assurance maladie des travailleurs salariés [CNAMTS]-Agence nationale de sécurité du médicament et des produits de santé [Saint-Denis] (ANSM), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Epigénétique des infections virales et des maladies inflammatoires (UR 4266) (EPILAB), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Groupe innovation et ciblage cellulaire (GICC), EA 7501 [2018-...] (GICC EA 7501), Université de Tours (UT), Hôpital Henri Mondor, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] (CRCTB), Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Plateforme de Ressources Biologiques [Henri Mondor AP-HP, Créteil] (PRB), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Henri Mondor, Clinical Epidemiology and Ageing : Geriatrie Soins Primaires et Santé Publique (CEpiA), CHI Créteil, IMRB - PROTECT/'Pharmacologie et Technologies pour les Maladies Cardiovasculaires' [Créteil] (U955 Inserm - UPEC), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), and VO, alexandra
Subjects: Male, medicine.medical_specialty, MESH: Spondylarthritis, Logistic regression, Severity of Illness Index, remission, Rheumatology, MESH: Severity of Illness Index, Internal medicine, Spondylarthritis, medicine, Humans, Spondylitis, Ankylosing, Pharmacology (medical), Mass index, prognostic factor, Recent onset, BASDAI, MESH: Treatment Outcome, [SDV.MHEP.RSOA] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Ankylosing spondylitis, MESH: Humans, business.industry, cohort, MESH: Axial Spondyloarthritis, MESH: Follow-Up Studies, Odds ratio, spondyloarthritis, MESH: Spondylitis, Ankylosing, medicine.disease, MESH: Male, Confidence interval, Treatment Outcome, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Cohort, MESH: Tumor Necrosis Factor Inhibitors, Female, Tumor Necrosis Factor Inhibitors, business, MESH: Female, Axial Spondyloarthritis, Follow-Up Studies
Abstract: Objective The factors contributing to long-term remission in axial SpA (axSpA) are unclear. We aimed to characterize individuals with axSpA at the 5-year follow-up to identify baseline factors associated with remission. Methods We included all patients from the DESIR cohort (with recent-onset axSpA) with an available Ankylosing Spondylitis Disease Activity Score–CRP (ASDAS-CRP) at 5-year follow-up. Patients in remission (ASDAS-CRP Results Overall, 111/449 patients (25%) were in remission after 5 years. Among those never exposed to TNFi, 31% (77/247) were in remission compared with 17% (34/202) of those exposed to TNFi. Patients in remission after 5 years were more likely to be male, HLA-B27+, have a lower BMI, and a higher education level. Baseline factors associated with 5-year remission in patients never exposed to TNFi included lower BASDAI [adjusted odds ratio (ORa) 0.9, 95% CI: 0.8, 0.9) and history of peripheral arthritis (ORa 2.1, 95% CI: 1.2, 5.3). In those exposed to TNFi, remission was associated with higher education level (ORa 2.9, 95% CI: 1.6, 5.1), lower enthesitis index (ORa 0.8, 95% CI: 0.7, 0.9), lower BASDAI (ORa 0.9, 95% CI: 0.9, 0.9) and lower BMI (ORa 0.8, 95% CI: 0.7, 0.9). Conclusion This study highlights the difficulty in achieving 5-year remission in those with recent-onset axSpA, especially for the more active cases, despite the use of TNFi. Socio-economic factors and BMI are implicated in the outcome at 5 years.
Published: 2021

4. Risk of major adverse cardiovascular events in patients initiating biologics/apremilast for psoriatic arthritis: a nationwide cohort study

Author: Philippe Le Corvoisier, Muriel Paul, Laetitia Penso, Laura Pina Vegas, Pascal Claudepierre, Emilie Sbidian, Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de rhumatologie [CHU Henri Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), CHU Henri Mondor, EPI-PHARE (EPI-PHARE), Caisse nationale d'assurance maladie des travailleurs salariés [CNAMTS]-Agence nationale de sécurité du médicament et des produits de santé [Saint-Denis] (ANSM), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), and VO, alexandra
Subjects: MESH: Interleukin-12, medicine.medical_specialty, MESH: Antirheumatic Agents, MESH: Biological Products, medicine.medical_treatment, MESH: Interleukin-17, apremilast, Psoriatic arthritis, Rheumatology, Internal medicine, National Health Data System, medicine, Clinical endpoint, MESH: Arthritis, Psoriatic, Pharmacology (medical), In patient, biologics, MESH: Cohort Studies, Survival analysis, [SDV.MHEP.RSOA] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, MESH: Humans, MESH: Middle Aged, business.industry, MESH: Thalidomide, MESH: Cardiovascular Diseases, MESH: Adult, medicine.disease, MESH: Male, TNF inhibitor, PsA, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, MESH: Biological Factors, MESH: Tumor Necrosis Factor Inhibitors, Apremilast, business, MESH: Female, Mace, Cohort study, medicine.drug, major adverse cardiovascular event (MACE)
Abstract: Objective Several biological DMARDs (bDMARDs) have demonstrated anti-inflammatory effects in PsA. However, their comparative cardiovascular safety profiles remain unknown. We evaluated the risk of major adverse cardiovascular events (MACEs) in PsA patients on therapy with different classes of bDMARDs and apremilast. Methods This nationwide cohort study involved the administrative healthcare database of the French health insurance scheme linked to the hospital discharge database. All adults with PsA who were new users of bDMARDs/apremilast (neither in the year before the index date) during 2015–19 were included. Patients with previous cardiovascular diseases were excluded. End of follow-up was 31 December 2019. The primary endpoint was an occurrence of MACEs in a time-to-event analysis with propensity score-weighted Cox and Fine–Gray models. Results Between 2015 and 2019, we included 9510 bDMARD new users [mean age 48.5 (s.d. 12.7) years; 42% men], including 7289 starting a TNF inhibitor, 1058 an IL-12/23 inhibitor and 1163 an IL-17 inhibitor, with 1885 apremilast new users [mean age 54.0 (s.d. 12.5) years; 44% men]. MACEs occurred in 51 (0.4%) patients. After propensity score weighting, the risk of MACEs was significantly greater with IL-12/23 (weighted hazard ratio 2.0, 95% CI 1.3, 3.0) and IL-17 (weighted hazard ratio 1.9, 95% CI 1.2, 3.0) inhibitors than TNF inhibitors, with no significant increased risk with apremilast (weighted hazard ratio 1.3, 95% CI 0.8, 2.2). Similar results were observed with the Fine–Gray competing risks survival model. Conclusion Analysis of a large database revealed a small overall number of MACEs, and the risk of MACEs was greater for PsA new users of IL-12/23 and IL-17 vs TNF inhibitors.
Published: 2022

5. RNF213-associated urticarial lesions with hypercytokinemia

Author: Camille Louvrier, Fawaz Awad, Anne Cosnes, Elma El Khouri, Eman Assrawi, Aphrodite Daskalopoulou, Bruno Copin, Hélène Bocquet, Sandra Chantot Bastaraud, Angela Arenas Garcia, Florence Dastot Le Moal, Pierre De La Grange, Philippe Duquesnoy, Chiara I. Guerrera, William Piterboth, Nicolas Ortonne, Olivier Chosidow, Sonia A. Karabina, Serge Amselem, Irina Giurgea, Louvrier, Camille, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), UF de Génétique chromosomique [CHU Trousseau], GenoSplice [Paris], Plateforme Protéomique Necker [SFR Necker] (PPN - 3P5), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Service d'Anatomopathologie [Hôpital Henri Mondor - APHP], CHU Henri Mondor, Dynamic Microbiology - EA 7380 (DYNAMIC), and École nationale vétérinaire - Alfort (ENVA)-Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES)-Université Paris-Est (UPE)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
Subjects: Proteomics, RNF213, [SDV.IMM] Life Sciences [q-bio]/Immunology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Immunology, Immunology and Allergy, hypercytokinemia, [SDV.IMM]Life Sciences [q-bio]/Immunology, genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, urticarial lesions
Abstract: International audience; Background. Urticarial lesions are observed in both cutaneous and systemic disorders. Familial forms of urticarial syndromes are rare and can be encountered in systemic auto-inflammatory diseases.Objective. We investigated a large family with dominantly inherited chronic urticarial lesions associated with hypercytokinemia. Methods. We performed a genetic linkage analysis in 14 patients from a 5-generation family, as well as whole-exome sequencing, cytokine profiling and transcriptomic analyses on samples from two patients. The identified candidate protein was studied after in vitro expression of the corresponding normal and mutated recombinant proteins. An unsupervised proteomic approach was followed to unveil the associated protein network. Results. The disease phenotype of the most affected family members is characterized by chronic urticarial flares associated with extremely high plasma levels of pro- (IL-1B, IL-6, TNF-a) and anti-inflammatory (IL-10, IL1-RA) cytokines, with no secondary organ dysfunction, no susceptibility to infections, no fever and normal C-reactive protein levels. Monocyte transcriptomic analyses identified an immunotolerant profile in the most affected patient. Affected family members carried a loss-of-function mutation in RNF213 that encodes mysterin, a protein of poorly known physiological role. We identified the deubiquitinase CYLD, a major regulator of inflammation, as an RNF213 partner and showed that CYLD expression is inhibited by wild-type but not mutant RNF213.Conclusion. We identified a new entity characterized by chronic urticarial lesions associated with a clinically-blunted hypercytokinemia. This disease, due to a loss of function of RNF213, reveals mysterin’s key role in the complex molecular network of innate immunity.
Published: 2022

6. Long-term quality of life in necrotizing soft-tissue infection survivors: a monocentric prospective cohort study

Author: Emilie Sbidian, Camille Hua, Richard Layese, R. Ouedraogo, Romain Bosc, de Prost N, A. Alves, Armand Mekontso Dessap, Tomas Urbina, Olivier Chosidow, Florence Canoui-Poitrine, Service de Réanimation Médicale [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Henri Mondor, Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de santé publique [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Groupe de recherche clinique CARMAS (Cardiovascular and Respiratory Manifestations of Acute lung injury and Sepsis) (CARMAS), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Henri Mondor, Henri Mondor Hospital Necrotizing Fasciitis Group: Romain Bosc, Olivier Chosidow, Nicolas de Prost, Camille Hua, Raphaël Lepeule, Alain Luciani, Lionel Nakad, Françoise Tomberli, Tomas Urbina, Paul-Louis Woerther, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Henri Mondor, and Gestionnaire, Hal Sorbonne Université
Subjects: Quality of life, medicine.medical_specialty, SF-36, Necrotizing fasciitis, [SDV]Life Sciences [q-bio], Critical Care and Intensive Care Medicine, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, Anesthesiology, Internal medicine, Septic shock, medicine, Intensive care unit, 030212 general & internal medicine, Prospective cohort study, Depression (differential diagnoses), Outcome, business.industry, RC86-88.9, Research, 030208 emergency & critical care medicine, Medical emergencies. Critical care. Intensive care. First aid, medicine.disease, humanities, 3. Good health, [SDV] Life Sciences [q-bio], Necrotizing soft-tissue infection, Critical care, SAPS II, business
Abstract: Background Compared to other life-threatening infection survivors, long-term health-related quality of life (QOL) of patients surviving necrotizing soft-tissue infections (NSTI) and its determinants are little known. In this monocentric prospective cohort including NSTI survivors admitted between 2014 and 2017, QOL was assessed during a phone interview using the 36-Item Short-Form Health Survey (SF-36), the Hospital Anxiety and Depression (HAD), the activity of daily living (ADL), instrumental ADL (IADL) scales and the Impact of Event Scale-Revised (IES-R). The primary outcome measure was the SF-36 physical component summary (PCS). NSTI patients were compared according to intensive care unit (ICU) admission status. ICU survivors were matched on SAPS II with non-NSTI related septic shock survivors. Results Forty-nine NSTI survivors were phone-interviewed and included in the study. Median PCS was decreased compared to the reference population [− 0.97 (− 2.27; − 0.08) SD]. Previous cardiac disease was the only variable associated with PCS alteration [multivariate regression coefficient: − 8.86 (− 17.64; − 0.07), p = 0.048]. Of NSTI survivors, 15.2% had a HAD-D score ≥ 5 and 61.2% an IES-R score ≥ 33. ICU admission was not associated with lower PCS [35.21 (25.49–46.54) versus (vs) 41.82 (24.12–51.01), p = 0.516], but with higher IES-R score [14 (7.5–34) vs 7 (3–18), p = 0.035] and a higher proportion of HAD-D score ≥ 5 (28.6 vs 4.0%, p = 0.036). Compared to non-NSTI septic shock-matched controls, NSTI patients had similar PCS [33.81 (24.58; − 44.39) vs 44.87 (26.71; − 56.01), p = 0.706] but higher HAD-D [3.5 (1–7) vs 3 (1.5–6), p = 0.048] and IES-R scores [18 (8–35) vs 8 (3–19), p = 0.049]. Conclusions Long-term QOL in NSTI survivors is severely impaired, similarly to that of non-NSTI septic shock patients for physical compartments, but with more frequent depressive and/or post-traumatic stress disorders. Only ICU admission and previous cardiac disease were predictive of QOL impairment.
Published: 2021

7. Clinical relevance of interdental papilla biopsy in chronic erosive gingivitis (desquamative gingivitis): retrospective bicentric study of 148 specimens

Author: Sébastien Jungo, Frédérick Gaultier, Gogly Bruno, François Le Pelletier de Clatigny, Sophie-Myriam Dridi, Fadel Bellakhdar, Philippe Pirnay, Saskia Ingen-Housz-Oro, Anne-Laure Ejeil, CHU Henri Mondor, Service d'Odontologie [Bretonneau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bretonneau, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de pathologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Henri Mondor, Centre Hospitalier Universitaire de Nice (CHU Nice), Service d'Anatomie et cytologie pathologiques = Service de Pathologie [CHU Pitié-Salpêtrière] (ACP), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
Subjects: medicine.medical_specialty, Biopsy, Autoimmune bullous diseases, Gingiva, Diagnosis, Differential, 030207 dermatology & venereal diseases, 03 medical and health sciences, Gingivitis, 0302 clinical medicine, Biopsy Site, medicine, Humans, General Dentistry, Interdental papilla, Retrospective Studies, medicine.diagnostic_test, business.industry, Research, Postoperative complication, RK1-715, 030206 dentistry, medicine.disease, Dermatology, 3. Good health, Desquamative gingivitis, medicine.anatomical_structure, Dentistry, Erosive gingivitis, Oral lichen planus, Oral and maxillofacial surgery, medicine.symptom, Differential diagnosis, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Background Chronic erosive gingivitis, also called desquamative gingivitis, defines a clinical picture that can be generated by several inflammatory and immune diseases. Pathology is therefore essential for the differential diagnosis. However, when the gingival lesion is initial, exclusive or predominant, selecting the biopsy site and protocol may be problematic due to tissue fragility. Especially since there are few studies on the subject, the aim of our study was to assess the protocol, diagnostic relevance and tolerance of an original protocol using interdental papilla biopsy. Methods We conducted a retrospective bicentric study, from October 2011 to July 2019, including all patients with a chronic erosive gingivitis who had received, for diagnostic purposes, a interdental papilla biopsy. Results The contribution levels for the two hospital departments were 94.7% and 97.1%, respectively. No postoperative complication was recorded in the short or long term. Conclusion The interdental papilla biopsy protocol is perfectly adapted to the anatomopathological examinations required to establish differential diagnosis of chronic erosive gingivitis. This surgical protocol is simple to perform, non iatrogenic with a very good tolerance and and accessible to all clinicians. It is highly efficient with an excellent contribution level. ClinicalTrials NCT04293718 (March 3, 2020). Health Data Hub N° F20201109083211 (November 9, 2020).
Published: 2021

8. Efficacy and Safety of Tacrolimus 0.1% for the Treatment of Facial Vitiligo: A Multicenter Randomized, Double-Blinded, Vehicle-Controlled Study

Author: Clélia Favary, Hervé Maillard, N. Andreu, Khaled Ezzedine, Thierry Passeron, Alexandra Duplaine, Catherine Droitcourt, Régis Lassalle, Julien Seneschal, Alain Taïeb, Biothérapies des maladies génétiques et cancers, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Saint-André, Service de dermatologie [CH Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA), Centre Hospitalier Universitaire de Nice (CHU Nice), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Dermatologie [Rennes] = Dermatology [Rennes], CHU Pontchaillou [Rennes], CHU Bordeaux [Bordeaux], Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), and Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
Subjects: Adult, Male, 0301 basic medicine, Target lesion, medicine.medical_specialty, Double blinded, Calcineurin Inhibitors, Population, Vitiligo, Skin Pigmentation, Dermatology, Administration, Cutaneous, Off-label use, Biochemistry, Drug Administration Schedule, Tacrolimus, Ointments, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Internal medicine, medicine, Humans, education, Molecular Biology, ComputingMilieux_MISCELLANEOUS, education.field_of_study, Adult patients, business.industry, Cell Biology, Middle Aged, medicine.disease, Calcineurin, Treatment Outcome, 030104 developmental biology, Patient Satisfaction, 030220 oncology & carcinogenesis, Female, business, Facial Dermatoses, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Follow-Up Studies
Abstract: Background Topical calcineurin inhibitors are used off label in the treatment of vitiligo, and there is a lack of placebo-controlled, blinded studies to support their use. Objective This study aimed to compare the efficacy of tacrolimus 0.1% ointment with that of the vehicle for repigmentation in adult patients with facial vitiligo. Design This study was a 24-week multicenter randomized parallel double-blind study with a 24-week post-treatment follow-up extension. Population Participants included were adult patients with recent facial vitiligo target lesions ( Intervention Patients received either tacrolimus 0.1% ointment or vehicle twice daily. Main Outcomes and Measures The primary outcome was a therapeutic success, defined as a change ≥75% in the repigmentation of the target lesion between baseline and week 24, measured by ImageJ software. Secondary outcome measures were a variation of the physicians’ global assessment scores and patients’ satisfaction scores, safety data, and the rate of relapse at week 48. Results A total of 42 patients were included. Therapeutic success was achieved in 65% of tacrolimus-treated patients versus 0% of vehicle-treated patients at week 24 (P Conclusions and Relevance Twice-daily tacrolimus 0.1% ointment showed superior efficacy to that of the vehicle through the 24 weeks of intervention and 24 weeks of follow-up in adult patients with facial vitiligo. Trial Registration This study was registered at ClinicalTrials.gov (identifier: NCT02466997 ).
Published: 2021

9. Ivermectin as a potential treatment for COVID-19?

Author: Didier Guillemot, Hervé Bourhy, Olivier Chosidow, Marc Lecuit, Charlotte Bernigaud, Bruno Giraudeau, Anne Lespine, Zahir Amoura, Jean-Pierre Changeux, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Dynamic Microbiology - EA 7380 (DYNAMIC), École nationale vétérinaire - Alfort (ENVA)-Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES)-Université Paris-Est (UPE)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidémiologie et modélisation de la résistance aux antimicrobiens - Epidemiology and modelling of bacterial escape to antimicrobials (EMAE), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Centre d’Investigation Clinique [Tours] CIC 1415 (CIC ), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), MethodS in Patients-centered outcomes and HEalth ResEarch (SPHERE), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR des Sciences Pharmaceutiques et Biologiques, Université de Nantes (UN)-Université de Nantes (UN), Innovations Thérapeutiques et Résistances (InTheRes), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Département de Neuroscience - Department of Neuroscience, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Lyssavirus, épidémiologie et neuropathologie - Lyssavirus Epidemiology and Neuropathology, Institut Pasteur [Paris] (IP), Biologie des Infections - Biology of Infection, Service des Maladies infectieuses et tropicales [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre d'Immunologie et des Maladies Infectieuses (CIMI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Gestionnaire, HAL Sorbonne Université 5, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris], École nationale vétérinaire d'Alfort (ENVA)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau-Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR des Sciences Pharmaceutiques et Biologiques, and Centre d'Immunologie et de Maladies Infectieuses (CIMI)
Subjects: RNA viruses, Viral Diseases, Coronaviruses, Epidemiology, Ectoparasitic Infections, RC955-962, law.invention, Scabies, 0302 clinical medicine, Ivermectin, Medical Conditions, Randomized controlled trial, law, Arctic medicine. Tropical medicine, Medicine and Health Sciences, Public and Occupational Health, 030212 general & internal medicine, Materials, Pathology and laboratory medicine, ComputingMilieux_MISCELLANEOUS, Randomized Controlled Trials as Topic, Mammals, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, 0303 health sciences, Eukaryota, Medical microbiology, Vaccination and Immunization, Solutions, Infectious Diseases, Viruses, Vertebrates, Physical Sciences, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Hamsters, SARS CoV 2, Pathogens, Public aspects of medicine, RA1-1270, medicine.drug, Neglected Tropical Diseases, 2019-20 coronavirus outbreak, Drug Research and Development, Coronavirus disease 2019 (COVID-19), SARS coronavirus, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Immunology, Materials Science, Sexually Transmitted Diseases, Research and Analysis Methods, Microbiology, Rodents, Formal Comment, 03 medical and health sciences, Vaccine Development, medicine, Parasitic Diseases, Humans, Animals, Clinical Trials, 030304 developmental biology, Pharmacology, Biology and life sciences, business.industry, SARS-CoV-2, Public Health, Environmental and Occupational Health, Organisms, Viral pathogens, Covid 19, medicine.disease, Tropical Diseases, Virology, Randomized Controlled Trials, COVID-19 Drug Treatment, Microbial pathogens, Medical Risk Factors, Mixtures, Amniotes, Preventive Medicine, Clinical Medicine, business, Zoology
Abstract: International audience
Published: 2021

10. Teledermatology: The perspective of French general practitioners

Author: G. Hirsch, Tu Anh Duong, H. Rostom, C. Skayem, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), and Université Paris-Saclay
Subjects: Teledermatology, medicine.medical_specialty, General physician, Dermatology, Skin Diseases, Education, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, General Practitioners, medicine, Humans, 030212 general & internal medicine, Referral and Consultation, ComputingMilieux_MISCELLANEOUS, Request, Remote Consultation, Perspective (graphical), Primary care physician, Telemedicine, Family medicine, Psychology, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: International audience; No abstract available
Published: 2021

11. Epidemiologic study of patients with psoriatic arthritis in a real-world analysis: a cohort study of the French health insurance database

Author: P. Claudepierre, Laetitia Penso, Laura Pina Vegas, Emilie Sbidian, Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Agence nationale de sécurité du médicament et des produits de santé [Saint-Denis] (ANSM), and Hôpital Henri Mondor
Subjects: Male, medicine.medical_specialty, Databases, Factual, Population, Comorbidity, Cohort Studies, Pulmonary Disease, Chronic Obstructive, 03 medical and health sciences, Psoriatic arthritis, 0302 clinical medicine, Rheumatology, Internal medicine, Epidemiology, Diabetes Mellitus, Prevalence, medicine, Adalimumab, Humans, Pharmacology (medical), 030212 general & internal medicine, education, Biosimilar Pharmaceuticals, Dyslipidemias, 030203 arthritis & rheumatology, Biological Products, education.field_of_study, business.industry, Incidence, Incidence (epidemiology), Arthritis, Psoriatic, Middle Aged, medicine.disease, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Antirheumatic Agents, Hypertension, Female, France, Apremilast, business, Cohort study, medicine.drug
Abstract: Objective PsA is a chronic inflammatory arthritis with heterogeneous disease manifestations. Data on the prevalence of PsA in adults differ widely depending on the study and the country. This study aimed to estimate the prevalence and incidence of PsA in France, characterize comorbidities associated to PsA and identify prescribed treatments. Methods This nationwide cohort study involved the administrative healthcare database (Système National des Données de Santé) of the French health insurance scheme linked to the national hospital discharge database. All adults with PsA registered in the database and identified with a specific International Classification of Diseases, 10th revision code (M07) were included between 1 January 2015 and 31 December 2018. Results A total of 63 598 patients were identified as having PsA [55.9 years (s.d. 14.4), 45.6% males]. The prevalence of PsA was estimated at 0.1% and the incidence at 8.4 per 100 000 person-years in the general population. The most common comorbidities were hypertension, diabetes, chronic obstructive pulmonary disease and dyslipidaemia. The prevalence of treatment with conventional synthetic DMARDs (csDMARDs), biological or biosimilar DMARDs (b/bsDMARDs) and apremilast for PsA was 25.9% (16 453), 30.4% (19 325) and 3.5% (2231), respectively. Overall, 8966 (14.1%) patients were new users of csDMARDs, 8311 (13.1%) were new users of b/bsDMARDs and 1529 (7.4%) were new users of apremilast. The most common first-line csDMARD was methotrexate (70.9%) and the most frequent first-line b/bsDMARD was adalimumab (30.8%). Conclusion Our results lead to a better understanding of PsA. Results were similar to those from other published studies using other data sources, which highlights the reliability of insurance databases for studies.
Published: 2021

12. IgG1 Subclass Restriction and Biochemical Peculiarities of Monoclonal Immunoglobulins in Scleromyxedema

Author: Pierre Aucouturier, Laurent Garderet, Jean-David Bouaziz, Camille Hua, François Lifermann, Pauline Cannet, O. Carpentier, Arsène Mekinian, Charles Zarnitsky, Bruno Sassolas, Philippe Modiano, T. Mahévas, Tania Petersen, Yannick Chantran, Service d'immunologie et hématologies biologiques [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Service de médecine interne [CHU Saint-Antoine], Service de Dermatologie [AP-HP Hôpital Saint-Louis], Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Groupe Hospitalier du Havre Hôpital Jacques Monod (MONTIVILLIERS) (GHH), Hôpital Saint Vincent de Paul de Lille, Groupe Hospitalier de l'Institut Catholique de Lille (GHICL), Centre Hospitalier de Dax, Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Hôpital Provo, Service d'Hématologie clinique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), and Aucouturier, Pierre
Subjects: 030213 general clinical medicine, [SDV.IMM] Life Sciences [q-bio]/Immunology, medicine.drug_class, Paraproteinemias, Immunoglobulin lambda-Chains, Immunoglobulin light chain, Monoclonal antibody, General Biochemistry, Genetics and Molecular Biology, Subclass, 03 medical and health sciences, 0302 clinical medicine, IgG subclass, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, scleromyxedema, biology, Chemistry, monoclonal gammopathy, Antibodies, Monoclonal, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.disease, Molecular biology, Isotype, 3. Good health, Immunoglobulin G, Monoclonal, biology.protein, [SDV.IMM]Life Sciences [q-bio]/Immunology, Antibody, immunoglobulin, Monoclonal gammopathy of undetermined significance, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: International audience; Background: Scleromyxedema (SME) is a rare mucinosis associated with monoclonal gammopathy. Several biochemical peculiarities of monoclonal immunoglobulins (Ig) in SME patients were reported in case reports or short series, such as IgGλ over-representation, cationic migration, and partial deletion. Methods: Monoclonal immunoglobulins (Ig) from the serum of 12 consecutive patients diagnosed with scleromyxedema (SME) were analyzed using electrophoretic and immunoblotting techniques. Results: All monoclonal Ig from 12 SME were of IgG1 subclass, with an overrepresentation of the lambda-type light chain and a cationic mobility on standard zone electrophoresis, as compared with 21 cases of monoclonal gammopathy of undetermined significance (MGUS) of IgG1 subclass. Reactivity with specific monoclonal antibodies demonstrated no evident deletion of the heavy chain constant domains, which was also confirmed by analysis of Ig heavy chain molecular weight on a purified monoclonal component from one case. Conclusions: Significant isotype restriction of both heavy and light chains, and peculiar biochemical properties suggest that monoclonal Ig might be involved in pathophysiological events of SME.
Published: 2021

13. A process modelling approach to assess the impact of teledermatology deployment onto the skin tumor care pathway

Author: Tu Anh Duong, Pierre Wolkenstein, Patricia Monnet, Mohammed El Khemiri, Marija Jankovic, Ouidad Zehou, Sonia Boudjemil, Charbel Skayem, G. Hirsch, Guillaume Lamé, Chaire Avenir Santé Numérique [Créteil] (CASN), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), CHU Henri Mondor, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Laboratoire Génie Industriel (LGI), CentraleSupélec-Université Paris-Saclay, Université Paris Diderot - Paris 7 (UPD7), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), and Guillaume, Lamé
Subjects: [SPI.OTHER]Engineering Sciences [physics]/Other, Telemedicine, Teledermatology, medicine.medical_specialty, Skin Neoplasms, 020205 medical informatics, Processmodelling, telehealth, Skin tumor, Health Informatics, Dermatology, 02 engineering and technology, Telehealth, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Health care, 0202 electrical engineering, electronic engineering, information engineering, medicine, Care pathway, Humans, 030212 general & internal medicine, Referral and Consultation, Aged, Aged, 80 and over, access to care, teledermatology, evaluation, [SPI.OTHER] Engineering Sciences [physics]/Other, business.industry, Cancer, non melanoma skin cancer, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.disease, 3. Good health, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SHS.GESTION]Humanities and Social Sciences/Business administration, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, telemedicine, Skin cancer, [SHS.GESTION] Humanities and Social Sciences/Business administration, business, Delivery of Health Care, care pathway, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: Background Teledermatology was raised as a potential answer to increase access and decrease delay for skin cancer management. However, its influence on non-melanoma skin cancer (NMSC) care pathway has never been studied. Objectives To compare conventional care pathway to teledermatology (TD) in NMSC care pathways using a process modelling approach. Patients and methods A period study including three groups was conducted in a department of dermatology. During the first period from January till February 2013 a NMSC care pathway was mapped for a group a prior TD integration. During the second period from September 2016 till October 2018, the NMSC care pathway was determined for patients managed by a conventional care process and after TD diagnosis. Patients characteristics, type of tumors and processes were compared using time as a key performance indicator. Mean were reported with their ± SD. Linear regression was performed using time between multidisciplinary consultation and surgery as outcome adjusted on sex, age and cancer type. Results During the first period (prior to TD) 89 NMSC patients were managed (mean age = 76 yr old ± 13) during the second period, 36 patients NMSC were managed after TD, mean age of 89 years old ± 6 and 954 patients in a conventional process, mean age of 78 years old ±12. In comparison between the two periods patient’s age, sex and cancer distribution significantly differed while the rate of surgery was not significantly different (p = 0.967). Linear multivariate regression using time between multidisciplinary consultation and surgery as outcome adjusted on sex age and cancer type displayed that during the second period patients in the TD group spent 17.6 days more [0.98,34.25] while patient in the conventional care process group had 9.8 days [1.85,17.74] more than patient in the study period 1, (p = 0.04, p = 0.02) without significant difference for age and sex (p = 0.29, p = 0.51). Patients with a SCC had a decreased time between multidisciplinary consultation and surgery of −12.97 days [−17.43, −8.5], p Conclusion Interestingly, patients managed by TD were significantly older than those managed using a conventional care pathway. Unexpectedly their total time spent in the process was not shorter. The results of this analysis illustrated the interest of using process modelling approach to assess the impact of a healthcare innovation integration and to further rethink coordination and care pathways for NSMC post TD.
Published: 2021

14. Google trends peut-il prédire de nouveaux signes cutanés durant les épidémies ?

Author: S. Huynh, Khaled Ezzedine, Tu Anh Duong, Guillaume Lamé, Thomas Hubiche, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Laboratoire Génie Industriel (LGI), CentraleSupélec-Université Paris-Saclay, Service de Dermatologie [Nice], and Hôpital Archet 2 [Nice] (CHU)
Subjects: [SPI.OTHER]Engineering Sciences [physics]/Other, [SHS.GESTION]Humanities and Social Sciences/Business administration, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Dermatology, [INFO.INFO-RO]Computer Science [cs]/Operations Research [cs.RO], [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, ComputingMilieux_MISCELLANEOUS, 3. Good health
Abstract: Introduction Google trends (GT) permet de connaitre la frequence a laquelle un terme a ete cherche dans Google. Son interet a ete demontre pour predire et detecter des foyers epidemiques. Cependant, aucune etude n’a evalue son interet pour detecter de nouveaux signes cutanes en integrant l’influence de facteurs externes i.e. confinement et couverture mediatique des nouveaux signes. L’objectif de ce travail est d’evaluer l’activite et l’influence de facteurs externes sur les recherches des signes cutanes lies a SARS-Cov-2 dans plusieurs pays. Materiel et methodes Deux recherches sur GT en incluant les termes 1/« orteil(s) » et « engelure(s) », et 2/« Coronavirus » ont ete realisees pour la periode 1er janvier - 16 mai 2020 dans 6 pays (France, Etats-Unis, Grande Bretagne (GB), Espagne, Italie et Allemagne). Pour chacun des pays, les facteurs externes i.e. date de confinement et annonce grand media des signes cutanes ont ete collectes. La sequence de recherche signes cutanes versus coronavirus a ete visualisee sur une figure commune en utilisant le ratio signes cutanes/coronavirus. Une regression lineaire par segments, en integrant les dates de confinement et d’annonce mediatique de chaque pays a ete realisee pour etudier l’impact des facteurs externes sur les recherches. Resultats Les volumes relatifs de recherche ou relative search volumes (RSVs) fournis par GT et lies aux engelures sont croissants sur la periode debutant mi-mars jusqu’aux annonces mediatiques (ou elle atteint un pic dans 3 pays). Le ratio RSVs engelures/RSVs Coronavirus, montre que l’interet relatif pour les engelures croit dans l’ensemble des pays. La regression lineaire par segments met en evidence : – apres le debut du confinement, un effet de seuil negatif (p – post annonces mediatiques, un effet de seuil positif et une pente decroissante (p – aucune variation en Allemagne. Le coefficient de determination R2 ajuste entre 0,305 et 0,351 pour la France, Espagne, Italie, et Etats-Unis montre une correlation moyenne entre le RSV et le temps. Discussion L’augmentation des RSVs signes cutanes avant les medias des la mi-mars temoigne d’un signal precoce present sur Google. Dans 4 pays, cet interet culmine au moment des annonces. Le ratio engelure/coronavirus montre cependant un seuil eleve de recherches apres les annonces en comparaison avec le coronavirus seul. Conclusion Un systeme d’alerte sur Google permettrait une detection precoce de symptomes cutanes associes a une maladie emergente. La prise en compte de facteurs, influencant les requetes, est necessaire pour garantir la fiabilite de tels systemes d’alerte.
Published: 2020

15. The Influence of Media Coverage and Governmental Policies on Google Queries Related to COVID-19 Cutaneous Symptoms: Infodemiology Study

Author: Guillaume Lamé, Thomas Hubiche, Tu Anh Duong, Solene Huynh Dagher, Khaled Ezzedine, Guillaume, Lamé, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Laboratoire Génie Industriel (LGI), CentraleSupélec-Université Paris-Saclay, Service de Dermatologie [Nice], Hôpital Archet 2 [Nice] (CHU), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Chaire Avenir Santé Numérique [Créteil] (CASN), Institut Mondor de Recherche Biomédicale (IMRB), and Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
Subjects: medicine.medical_specialty, 020205 medical informatics, MEDLINE, Google Trends, skin lesions, Health Informatics, Media coverage, Public Policy, 02 engineering and technology, online health information, Skin Diseases, infodemiology, chilblains, Infodemiology, lesion, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Public health surveillance, Pandemic, Epidemiology, 0202 electrical engineering, electronic engineering, information engineering, medicine, Humans, Public Health Surveillance, Mass Media, Chilblains, Internet, Original Paper, media coverage, media, Public Health, Environmental and Occupational Health, Outbreak, COVID-19, medicine.disease, United States, 3. Good health, Europe, Search Engine, dermatology, Geography, trend, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Demography
Abstract: Background During COVID-19, studies have reported the appearance of internet searches for disease symptoms before their validation by the World Health Organization. This suggested that monitoring of these searches with tools including Google Trends may help monitor the pandemic itself. In Europe and North America, dermatologists reported an unexpected outbreak of cutaneous acral lesions (eg, chilblain-like lesions) in April 2020. However, external factors such as public communications may also hinder the use of Google Trends as an infodemiology tool. Objective The study aimed to assess the impact of media announcements and lockdown enforcement on internet searches related to cutaneous acral lesions during the COVID-19 outbreak in 2020. Methods Two searches on Google Trends, including daily relative search volumes for (1) “toe” or “chilblains” and (2) “coronavirus,” were performed from January 1 to May 16, 2020, with the United States, the United Kingdom, France, Italy, Spain, and Germany as the countries of choice. The ratio of interest over time in “chilblains” and “coronavirus” was plotted. To assess the impact of lockdown enforcement and media coverage on these internet searches, we performed an interrupted time-series analysis for each country. Results The ratio of interest over time in “chilblains” to “coronavirus” showed a constant upward trend. In France, Italy, and the United Kingdom, lockdown enforcement was associated with a significant slope change for “chilblain” searches with a variation coefficient of 1.06 (SE 0.42) (P=0.01), 1.04 (SE 0.28) (P Conclusions To date, the association between chilblain-like lesions and COVID-19 remains controversial; however, our results indicate that Google queries of “chilblain” were highly influenced by media coverage and government policies, indicating that caution should be exercised when using Google Trends as a monitoring tool for emerging diseases.
Published: 2020

16. ICOS is widely expressed in cutaneous T-cell lymphoma, and its targeting promotes potent killing of malignant cells

Author: Yves Collette, Amandine De Croos, Saskia Ingen-Housz-Oro, Nicolas Ortonne, Jean-Jacques Grob, Philippe Berbis, Rémy Castellano, Clémentine Salvado, Marc Lopez, Laurent Gorvel, Florence Orlanducci, N. Bonnet, Florent Amatore, Jean-Marc Schiano, Philippe Gaulard, Daniel Olive, Armand Bensussan, Reda Bouabdallah, Martine Bagot, Armelle Goubard, Centre de Recherche en Cancérologie de Marseille (CRCM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Service de dermatologie, vénéreologie et cancérologie cutanée [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Nord [CHU - APHM], Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service d’Hématologie [Institut Paoli Calmettes, Marseille], Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Service de Dermatologie [AP-HP Hôpital Saint-Louis], Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Recherche Saint-Louis - Hématologie Immunologie Oncologie (Département de recherche de l’UFR de médecine, ex- Institut Universitaire Hématologie-IUH) (IRSL), Université de Paris (UP), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Henri Mondor, Aix Marseille Université (AMU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris Cité (UPCité), collette, yves, and NUNES, Jacques A
Subjects: Skin Neoplasms, [SDV.IMM] Life Sciences [q-bio]/Immunology, Immunobiology and Immunotherapy, medicine.drug_class, [SDV]Life Sciences [q-bio], [SDV.CAN]Life Sciences [q-bio]/Cancer, Monoclonal antibody, Flow cytometry, Inducible T-Cell Co-Stimulator Protein, 03 medical and health sciences, Mice, 0302 clinical medicine, Circulating tumor cell, Mycosis Fungoides, [SDV.CAN] Life Sciences [q-bio]/Cancer, Mogamulizumab, Medicine, Animals, Humans, Sezary Syndrome, Brentuximab vedotin, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Mycosis fungoides, medicine.diagnostic_test, business.industry, Cutaneous T-cell lymphoma, Hematology, medicine.disease, 3. Good health, Lymphoma, Lymphoma, T-Cell, Cutaneous, [SDV] Life Sciences [q-bio], 030220 oncology & carcinogenesis, Cancer research, [SDV.IMM]Life Sciences [q-bio]/Immunology, business, medicine.drug
Abstract: The treatment of advanced-stage cutaneous T-cell lymphoma (CTCL) remains an unmet medical need. Mogamulizumab, anti-KIR3DL2, and brentuximab vedotin (BV), an anti-CD30 antibody–drug conjugate (ADC) coupled with monomethyl-auristatin-E (MMAE), provided encouraging results, but new targeted therapies are needed. Inducible T-cell costimulator (ICOS), a T-cell costimulatory receptor, is a promising therapeutic target, not only because it is expressed by malignant T cells in CTCL but also because of its connection with the suppressive activity of regulatory T (Treg) cells. Immunohistochemical analysis revealed that ICOS was widely expressed by malignant cells in skin biopsy specimens from 52 patients with mycosis fungoides and Sézary syndrome (SS), as well as in involved node biopsy specimens from patients with SS. Furthermore, flow cytometry demonstrated its strong expression by circulating tumor cells in all our patients with SS. Percentages of ICOS+ Treg cells were significantly higher in patients with SS than in healthy donors. We then investigated the preclinical efficacy of anti-ICOS ADCs generated by coupling murine anti-ICOS monoclonal antibodies with MMAE and pyrrolobenzodiazepine. In 3 CTCL cell lines (Myla, MJ, and HUT78), we observed a significant dose-dependent decrease in cell viability in the presence of anti-ICOS ADCs. In addition, anti-ICOS-MMAE ADCs had an in vitro and in vivo efficacy superior to BV in a mouse xenograft model (MyLa). Finally, we assessed the efficacy of anti-ICOS ADCs in ICOS+ patient-derived xenografts from patients with SS and angioimmunoblastic T-cell lymphoma. Collectively, our findings provide the preliminary basis for a therapeutic trial.
Published: 2020

17. Comment on ‘Baseline use of hydroxychloroquine in systemic lupus erythematosus does not preclude SARS-CoV-2 infection and severe COVID-19’ by Konig et al . Long-term exposure to hydroxychloroquine or chloroquine and the risk of hospitalisation with COVID-19: a nationwide, observational cohort study in 54 873 exposed individuals and 155 689 matched unexposed individuals in France

Author: Rosemay Dray-Spira, Emilie Sbidian, Alain Weill, Jérémie Botton, Jérôme Drouin, Laura Semenzato, Philippe Herlemont, Bérangère Baricault, Laetitia Penso, Mahmoud Zureik, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), EPI-PHARE (EPI-PHARE), Caisse nationale d'assurance maladie des travailleurs salariés [CNAMTS]-Agence nationale de sécurité du médicament et des produits de santé [Saint-Denis] (ANSM), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, and VO, alexandra
Subjects: medicine.medical_specialty, Pediatrics, hydroxychloroquine, Coronavirus disease 2019 (COVID-19), Population, Immunology, MEDLINE, General Biochemistry, Genetics and Molecular Biology, Rheumatology, Chloroquine, Epidemiology, medicine, Immunology and Allergy, education, ComputingMilieux_MISCELLANEOUS, education.field_of_study, Lupus erythematosus, business.industry, Hydroxychloroquine, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, systemic, medicine.disease, epidemiology, business, lupus erythematosus, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.drug, Cohort study
Abstract: We have read the recent report by Konig et al 1 with great interest where they described the clinical course of COVID-19 in 80 patients with systemic lupus erythematosus. The frequency of hospitalisation with COVID-19 did not differ between individuals using a synthetic antimalarial drug (AMD) and non-users. The objective of this report was to examine the association of long-term synthetic AMD exposure with hospitalisation with COVID-19 in a larger population in France. We did a nationwide, retrospective, matched ‘exposed/unexposed’ cohort study using information from the French national health data system (online supplementary methods).2 All individuals who had six reimbursements of synthetic AMD (hydroxychloroquine (HCQ) or chloroquine) within the 12-month period preceding study entry (15 February 2020) were included. For each exposed individual, we randomly selected, from the entire French population, up to three unexposed individuals matched on age, sex, department of residence and complementary universal health insurance. The underlying diseases related to synthetic AMD exposure were recorded, as well as comorbidities and consumption of oral steroids (online supplementary tables 1 and 2). Our study was based on data available on hospital discharges as of 7 June 2020 (online supplementary methods). On this date, 83 445 patients with hospitalisation with COVID-19 have been reported, and 14 566 …
Published: 2020

18. Association Between Adult Acne and Dietary Behaviors: Findings From the NutriNet-Santé Prospective Cohort Study

Author: Mélanie Deschasaux, Emilie Sbidian, Fabien Szabo de Edelenyi, Mathilde Touvier, Khaled Ezzedine, Laetitia Penso, Serge Hercberg, Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Equipe 3: EREN- Equipe de Recherche en Epidémiologie Nutritionnelle (CRESS - U1153), Université Sorbonne Paris Nord-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Département de Santé Publique [Avicenne], Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), and HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: Adult, Male, medicine.medical_specialty, Adolescent, Dietary Sugars, Cross-sectional study, Dermatology, Eating, Young Adult, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Acne Vulgaris, medicine, Animals, Humans, Prospective Studies, Young adult, Prospective cohort study, Acne, ComputingMilieux_MISCELLANEOUS, Original Investigation, Aged, Sugar-Sweetened Beverages, 2. Zero hunger, Principal Component Analysis, business.industry, Confounding, Odds ratio, Middle Aged, Nutrition Surveys, medicine.disease, Dietary Fats, Diet, 3. Good health, Epidemiologic Studies, Cross-Sectional Studies, Milk, Food, 030220 oncology & carcinogenesis, Female, Observational study, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, France, Diet, Healthy, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, Cohort study
Abstract: Importance Acne is a chronic, multifactorial inflammatory disease. The association between consumption of dairy products and fatty and sugary foods and occurrence and progression of acne remains unclear. Objective To assess the association between dietary behavior and current acne in adults. Design, Setting, and Participants A cross-sectional study was performed as part of the NutriNet-Sante study, which is an ongoing observational, web-based cohort study that was launched in France in May 2009. The present study was conducted from November 14, 2018, to July 8, 2019. A total of 24 452 participants completed an online self-questionnaire to categorize their acne status: never acne, past acne, or current acne. Associations between dietary behavior (food intake, nutrient intake, and the dietary pattern derived from a principal component analysis) and current or past acne were studied in multinomial logistic regression models adjusted for potential confounding variables (age, sex, physical activity, smoking status, educational level, daily energy intake, number of dietary records completed, and depressive symptoms). Results The 24 452 participants (mean [SD] age, 57 [14] years; 18 327 women [75%]) completed at least 3 dietary records. Of these, 11 324 individuals (46%) reported past or current acne. After adjustment, there was a significant association between current acne and the consumption of fatty and sugary products (adjusted odds ratio [aOR], 1.54; 95% CI, 1.09-2.16), sugary beverages (aOR, 1.18; 95% CI, 1.01-1.38), and milk (aOR, 1.12; 95% CI, 1.00-1.25). An energy-dense dietary pattern (high consumption of fatty and sugary products) was associated with current acne (aOR, 1.13; 95% CI, 1.05-1.18). Conclusions and Relevance In this study, consumption of milk, sugary beverages, and fatty and sugary products appeared to be associated with current acne in adults. Further large-scale studies are warranted to investigate more closely the associations between diet and adult acne.
Published: 2020

19. Vitiligo: Targeted Therapies Add Color to Disease Pathophysiology

Author: Terrence M. Vance, Khaled Ezzedine, Abrar A. Qureshi, Iltefat H. Hamzavi, Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
Subjects: 0301 basic medicine, medicine.medical_specialty, Vitiligo, Dermatology, Disease, Placebo, Biochemistry, Ultraviolet therapy, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, medicine, Humans, Prospective Studies, skin and connective tissue diseases, Prospective cohort study, Molecular Biology, ComputingMilieux_MISCELLANEOUS, integumentary system, business.industry, Cell Biology, medicine.disease, Thalidomide, Clinical trial, 030104 developmental biology, Treatment Outcome, 030220 oncology & carcinogenesis, Ultraviolet Therapy, Apremilast, business, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.drug
Abstract: There is excitement in the air for patients with vitiligo. For the first time in decades, we have early case studies showing that targeted therapies can repigment vitiliginous skin, and well-powered clinical trials are underway. However, at the time of this writing, there is no Food and Drug Administration–approved drug for vitiligo. In a randomized clinical trial by Khemis et al. report negative results on a randomized clinical trial testing the combination of apremilast, a phosphodiesterase 4 inhibitor, and narrowband-ultraviolet B versus placebo and narrowband-ultraviolet B in patients with nonsegmental vitiligo. The results of this trial are a reminder that clinical management of vitiligo is challenging at best, even when combining anti-inflammatory and/or immunomodulating agents with repigmenting agents. However, these negative trials are critical in improving our understanding of this complex and disfiguring disease.
Published: 2020

20. Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa

Author: Hervé Bachelez, Florence Tubach, Asma Smahi, Pascal Richette, Florence Assan, Francis Derouin, François Aubin, Said Lebbah, Marine Madrange, Boualem Sendid, Emmanuel Delaporte, Stéphane Bretagne, Emilie Sbidian, E. Pape, Jeremy Gottlieb, Geoffroy Hickman, Nicolas Guigue, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Parasitologie-Mycologie [CHU Saint Louis, Paris], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Lille Inflammation Research International Center - U 995 (LIRIC), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Dermatology (CHU Besançon), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)
Subjects: Adult, Male, [SDV]Life Sciences [q-bio], Immunology, Saccharomyces cerevisiae, Systemic inflammation, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Seroepidemiologic Studies, Advanced disease, Immunology and Allergy, Medicine, Humans, Hidradenitis suppurativa, Antibodies, Fungal, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Aged, Inflammation, 0303 health sciences, biology, business.industry, Middle Aged, medicine.disease, biology.organism_classification, 3. Good health, Hidradenitis Suppurativa, Immunoglobulin A, Immunoglobulin G, biology.protein, Female, France, medicine.symptom, Antibody, business
Abstract: International audience
Published: 2020

21. Most chilblains observed during the COVID‐19 outbreak occur in patients who are negative for COVID‐19 on polymerase chain reaction and serology testing

Author: A. Levy Roy, Pierre Wolkenstein, C. Lesort, C. Boulard, Slim Fourati, Mahtab Samimi, E. Kostrzewa, A. Colin, Sébastien Barbarot, L. Dousset, F. Lombart, C. Bourseau Quetier, Laurence Le Cleach, M. Tardieu, J. Marco-Bonnet, L. Cambon, Marie Beylot-Barry, Haudrey Assier, C Cazanave, Jean-Benoît Monfort, Emilie Sbidian, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Service de bactériologie, virologie, hygiène [Mondor], Service de dermatologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Physiopathologie des Adaptations Nutritionnelles (PhAN), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Department of Dermatology, Hopital du havre, Hôpital Robert Boulin, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Private practice, Private Practice, Service de dermatologie [CHU d'Amiens-Picardie], CHU Amiens-Picardie, Service de dermatologie et allergologie [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre Hospitalier Universitaire [Grenoble] (CHU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)
Subjects: Male, Biopsy, [SDV]Life Sciences [q-bio], Polymerase Chain Reaction, Serology, law.invention, 030207 dermatology & venereal diseases, COVID-19 Testing, 0302 clinical medicine, law, Young adult, skin and connective tissue diseases, Letter to the Editor, Polymerase chain reaction, Skin, medicine.diagnostic_test, 3. Good health, Chilblains, RNA, Viral, Original Article, Female, France, medicine.symptom, Coronavirus Infections, Adult, medicine.medical_specialty, Adolescent, Pneumonia, Viral, Dermatology, Lesion, Betacoronavirus, Young Adult, 03 medical and health sciences, medicine, Humans, Serologic Tests, Letters to the Editor, Pandemics, Clinical Laboratory Techniques, SARS-CoV-2, business.industry, COVID-19, Outbreak, Histology, Original Articles, medicine.disease, business
Abstract: BACKGROUND: Acral lesions, mainly chilblains, are the most frequently reported cutaneous lesions associated with COVID-19. In more than 80% of patients tested, nasopharyngeal swabs were negative on reverse transcription polymerase chain reaction (RT-PCR) for SARS-CoV-2 when performed, and serology was generally not performed. METHODS: A national survey was launched on 30 March 2020 by the French Society of Dermatology asking physicians to report cases of skin manifestations in patients with suspected or confirmed COVID-19 by using a standardized questionnaire. We report the results for acral manifestations. RESULTS: We collected 311 cases of acral manifestations [58.5% women, median age 25.7 years (range 18-39)]. The most frequent clinical presentation (65%) was typical chilblains. In total, 93 cases (30%) showed clinical suspicion of COVID-19, 67 (22%) had only less specific infectious symptoms and 151 (49%) had no clinical signs preceding or during the course of acral lesions. Histology of skin biopsies was consistent with chilblains. Overall, 12 patients showed significant immunological abnormalities. Of the 150 (48%) patients who were tested, 10 patients were positive. Seven of 121 (6%) RT-PCR-tested patients were positive for SARS-CoV-2, and five of 75 (7%) serology-tested patients had IgG anti-SARS-CoV-2. Tested/untested patients or those with/without confirmed COVID-19 did not differ in age, sex, history or acral lesion clinical characteristics. CONCLUSIONS: The results of this survey do not rule out that SARS-CoV-2 could be directly responsible for some cases of chilblains, but we found no evidence of SARS-CoV-2 infection in the large majority of patients with acral lesions during the COVID-19 lockdown period in France. What is already known about this topic? About 1000 cases of acral lesions, mainly chilblains, were reported during the COVID-19 outbreak. Chilblains were reported to occur in young people within 2 weeks of infectious signs, which were mild when present. Most cases did not have COVID-19 confirmed by reverse transcription polymerase chain reaction (RT-PCR), and few serology results were available. What does this study add? Among 311 patients with acral lesions, mainly chilblains, during the COVID-19 lockdown period in France, the majority of patients tested had no evidence of SARS-CoV-2 infection. Overall, 70 of 75 patients were seronegative for SARS-Cov-2 serology and 114 of 121 patients were negative for SARS-CoV-2 RT-PCR.
Published: 2020

22. Beyond quality of life: A call for patients' own willingness to pay in chronic skin disease to assess psychosocial burden-A multicenter, cross-sectional, prospective survey

Author: Khaled Ezzedine, Chul Hwan Bang, Chul Jong Park, Jung Eun Kim, Ju Hee Han, Ro Woo Lee, Joo Hee Lee, Yu Ri Woo, Hyun Jeong Ju, Jung Min Bae, Ji Hae Lee, Miri Kim, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), and Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
Subjects: medicine.medical_specialty, business.industry, Dermatology, Atopic dermatitis, Vitiligo, Dermatology Life Quality Index, medicine.disease, Skin Diseases, Quality of life (healthcare), Cross-Sectional Studies, Willingness to pay, Family medicine, Psoriasis, Surveys and Questionnaires, Chronic Disease, medicine, Quality of Life, Chronic skin disease, Humans, Prospective Studies, business, Psychosocial, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: International audience
Published: 2020

23. Perceived clinical severity of atopic dermatitis in adolescents: Comparison between patients' and parents' evaluation

Author: Khaled Ezzedine, Stéphanie Merhand, Francesca Sampogna, Charles Taieb, Jason Shourick, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Européen Georges Pompidou [APHP] (HEGP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)
Subjects: Adult, Male, Parents, medicine.medical_specialty, Adolescent, business.industry, Psychology, Adolescent, MEDLINE, Dermatology, Atopic dermatitis, medicine.disease, Severity of Illness Index, Dermatitis, Atopic, Medicine, Humans, Clinical severity, Female, Perception, business, Child, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: International audience
Published: 2020

24. Epidermal hepcidin is required for neutrophil response to bacterial infection

Author: Mariangela Malerba, Jean-Winoc Decousser, Sabine Louis, Annelies S. Zinkernagel, Nicolas Ortonne, Carole Peyssonnaux, Srikanth Mairpady Shambat, Camille Hua, Camille Gomart, Agnès Fouet, Sylvain Cuvellier, Jacques Mathieu, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de pathologie [Mondor], Department of Virology, Bacteriology-Infection Control, Parasitology-Mycology, Assistance Publique-Hôpitaux de Paris, Centre Hospitalier Universitaire Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), University of Zurich, Peyssonnaux, Carole, and Université de Paris, Institut Cochin, Institut National de la Santé et de la Recherche Médicale INSERM U1016, Centre National de la Recherche Scientifique CNRS UMR8104, F-75014 Paris.
Subjects: 0301 basic medicine, Keratinocytes, Proteases, Chemokine, Neutrophils, Streptococcus pyogenes, Chemokine CXCL1, [SDV]Life Sciences [q-bio], 610 Medicine & health, 2700 General Medicine, medicine.disease_cause, Mouse models, Group A, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity, 10234 Clinic for Infectious Diseases, 03 medical and health sciences, Mice, 0302 clinical medicine, Hepcidins, Immunity, Hepcidin, Bacterial infections, Streptococcal Infections, Medicine, Animals, Humans, Fasciitis, Necrotizing, ComputingMilieux_MISCELLANEOUS, Mice, Knockout, Infectious disease, biology, business.industry, Streptococcus, Concise Communication, General Medicine, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, 3. Good health, CXCL1, Disease Models, Animal, 030104 developmental biology, 030220 oncology & carcinogenesis, Immunology, biology.protein, Epidermis, Chemokines, business, Hormone
Abstract: Novel approaches for adjunctive therapy are urgently needed for complicated infections and patients with compromised immunity. Necrotizing fasciitis (NF) is a destructive skin and soft tissue infection. Despite treatment with systemic antibiotics and radical debridement of necrotic tissue, lethality remains high. The key iron regulatory hormone hepcidin was originally identified as a cationic antimicrobial peptide (AMP), but its putative expression and role in the skin, a major site of AMP production, have never been investigated. We report here that hepcidin production is induced in the skin of patients with group A Streptococcus (GAS) NF. In a GAS-induced NF model, mice lacking hepcidin in keratinocytes failed to restrict systemic spread of infection from an initial tissue focus. Unexpectedly, this effect was due to its ability to promote production of the CXCL1 chemokine by keratinocytes, resulting in neutrophil recruitment. Unlike CXCL1, hepcidin is resistant to degradation by major GAS proteases and could therefore serve as a reservoir to maintain steady-state levels of CXCL1 in infected tissue. Finally, injection of synthetic hepcidin at the site of infection can limit or completely prevent systemic spread of GAS infection, suggesting that hepcidin agonists could have a therapeutic role in NF.
Published: 2019

25. Lookalike and soundalike drugs: a potential cause of cutaneous adverse reactions to drugs

Author: P. Modiano, Colin J. Davis, Charles Cassius, D. Carre-Gislard, Bénédicte Lebrun-Vignes, Saskia Ingen-Housz-Oro, Olivier Chosidow, P Bravard, Hôpital Henri Mondor, University of Bristol [Bristol], Groupe Hospitalier du Havre Hôpital Jacques Monod (MONTIVILLIERS) (GHH), Hôpital Saint-Vincent de Paul, Service de Pharmacologie médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), and VO, alexandra
Subjects: medicine.medical_specialty, Databases, Factual, business.industry, MEDLINE, Dermatology, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, Mental Health Data Science, Pharmacovigilance, Medicine, Humans, Medication Errors, Physical and Mental Health, Drug Eruptions, France, business, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Drug Labeling, Retrospective Studies, Skin
Abstract: International audience; No abstract available
Published: 2019

26. A genome wide association study identifies new genes potentially associated with eyelid sagging

Author: Damien Ulveling, Pilar Galan, Toufik Labib, Khaled Ezzedine, Frédérique Morizot, Christiane Guinot, Sigrid Le Clerc, Erwin Tschachler, Julie Latreille, Jean-François Zagury, Cédric Coulonges, Vincent Laville, R. Jdid, Léopold Fezeu, D. Malvy, Lieng Taing, Laboratoire Génomique, bioinformatique et chimie moléculaire (GBCM), Conservatoire National des Arts et Métiers [CNAM] (CNAM), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Auteur indépendant, Equipe 3: EREN- Equipe de Recherche en Epidémiologie Nutritionnelle (CRESS - U1153), Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Paris 13 (UP13)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA), Université Francois Rabelais [Tours], Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Vienna [Vienna], HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), and Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: 0301 basic medicine, Linkage disequilibrium, genetic association, [SDV]Life Sciences [q-bio], Genome-wide association study, Single-nucleotide polymorphism, Dermatology, histone, Bioinformatics, Polymorphism, Single Nucleotide, Biochemistry, Histones, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Chromosome 16, Humans, Medicine, Allele, Molecular Biology, Gene, genome wide association study, Genetic association, epigenetics, business.industry, Eyelids, Middle Aged, Skin Aging, 3. Good health, body regions, 030104 developmental biology, medicine.anatomical_structure, Female, Eyelid, business, skin ageing, Genome-Wide Association Study
Abstract: International audience; Sagging eyelid is considered as an outward of skin ageing and may cause medical issues. However, little is known about the factors involved in sagging eyelid. The study, which aims at determining genetic risk factors for eyelid sagging, was conducted in a cohort of 502 unrelated Caucasian women living in the Paris region. All included participants were aged between 44 and 70 years old (mean age, 57.6 years old). The severity of sagging eyelid was graded in 6 categories by a dermatologist using standardized photographs of the face. A genome wide association study adjusted on potential risk factors (including age and smoking habits) was conducted to identify genetic associations. Two single nucleotide polymorphisms in total linkage disequilibrium on chromosome 10, rs16927253 (P = 7.07 × 10‐10) and rs4746957 (P = 1.06 × 10‐8), were significantly associated with eyelid sagging severity. The rs16927253‐T and rs4746957‐A alleles showed a dominant protective effect towards eyelid sagging. These polymorphisms are located in intronic parts of the H2AFY2 gene which encodes a member of the H2A histone family and very close to the AIFM2 gene that induces apoptosis. Additionally, single nucleotide polymorphisms with a false discovery rate below 0.25 were located nearby the type XIII collagen COL13A1 gene on chromosome 10 and in the ADAMTS18 gene on chromosome 16. Several relevant genes were identified by the genome wide association study for their potential role in the sagging eyelid severity.
Published: 2019

27. Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins)

Author: Saskia, Ingen-Housz-Oro, Tu-Anh, Duong, Benoit, Bensaid, Nathalia, Bellon, Nicolas, de Prost, Dévy, Lu, Bénédicte, Lebrun-Vignes, Julie, Gueudry, Emilie, Bequignon, Karim, Zaghbib, Gérard, Royer, Audrey, Colin, Giao, Do-Pham, Christine, Bodemer, Nicolas, Ortonne, Annick, Barbaud, Laurence, Fardet, Olivier, Chosidow, Pierre, Wolkenstein, Maria-Polina, Konstantinou, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Service de dermatologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de réanimation médicale, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'ophtalmologie [Rouen], Hôpital Charles-Nicolle-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'ORL et de chirurgie cervico-faciale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Pôle de Psychiatrie [Hôpital Henri Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital H. Mondor - A. Chenevier, Hôpital Henri Mondor, CHI Créteil, Département de pathologie [Mondor], Service de dermatologie et allergologie [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Rouen, Normandie Université (NU)-Hôpital Charles-Nicolle, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Pediatrics, medicine.medical_specialty, Critical Care, lcsh:Medicine, Disease, Stevens-Johnson syndrome, Culprit, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Epidermal necrolysis, Intensive care, medicine, Humans, Pharmacology (medical), Lyell syndrome, Position Statement, Genetics (clinical), Skin, LYELL SYNDROME, business.industry, lcsh:R, Toxic epidermal necrolysis, Overlap syndrome, General Medicine, medicine.disease, Optimal management, Management, 3. Good health, Treatment, Causality, Drug reaction, Causality Background, 030220 oncology & carcinogenesis, France, business, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: Epidermal necrolysis (EN) encompasses Stevens-Johnson syndrome (SJS
Published: 2018

28. High-dose ivermectin in malaria and other parasitic diseases: a new step in the development of a neglected drug

Author: Charlotte Bernigaud, G. Do-Pham, Olivier Chosidow, Hôpital Henri Mondor, Departement de Dermatolgie, Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Dynamic Microbiology - EA 7380 (DYNAMIC), École nationale vétérinaire - Alfort (ENVA)-Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES)-Université Paris-Est (UPE)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Research Group Dynamyc, EA 7380, and Université Paris-Est (UPE)
Subjects: Drug, Pediatrics, medicine.medical_specialty, Veterinary (miscellaneous), media_common.quotation_subject, [SDV]Life Sciences [q-bio], malaria, 030204 cardiovascular system & hematology, Biology, law.invention, lcsh:Infectious and parasitic diseases, 03 medical and health sciences, 0302 clinical medicine, Ivermectin, Randomized controlled trial, law, high doses, parasitic diseases, medicine, Scabies, High doses, lcsh:RC109-216, 030212 general & internal medicine, head lice, media_common, medicine.disease, scabies, 3. Good health, Regimen, Infectious Diseases, Insect Science, Animal Science and Zoology, Parasitology, oral ivermectin, Malaria, medicine.drug
Abstract: International audience; We highlight the absence of high-level evidence from dose-ranging studies regarding the use of oral ivermectin in susceptible parasitic diseases. We provide published data supporting the use of a higher dosage regimen of ivermectin in malaria and difficult-to-treat head lice, and announce an ongoing randomized clinical trial in severe scabies.
Published: 2018

29. Association Between Severe Acute Contact Dermatitis Due to Nigella sativa Oil and Epidermal Apoptosis

Author: A. Jannic, O. Gaudin, Pierre Wolkenstein, Elena Giménez-Arnau, Feyrouz Toukal, Haudrey Assier, Olivier Chosidow, Saskia Ingen-Housz-Oro, Camille Hua, Nicolas Ortonne, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut de Chimie de Strasbourg, Université de Strasbourg (UNISTRA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), and Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)
Subjects: medicine.medical_specialty, Apoptosis, Dermatology, Dermatitis, Contact, Severity of Illness Index, 030207 dermatology & venereal diseases, 03 medical and health sciences, chemistry.chemical_compound, Basal (phylogenetics), Young Adult, 0302 clinical medicine, Dermis, Severity of illness, medicine, Humans, Plant Oils, [SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergology, Thymoquinone, Retrospective Studies, business.industry, Brief Report, Middle Aged, Patch Tests, medicine.disease, Pathophysiology, Toxic epidermal necrolysis, 3. Good health, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, Acute Disease, Female, Epidermis, business, Contact dermatitis, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Case series
Abstract: International audience; Importance Nigella sativa oil (NSO) is widely used for cosmetic and culinary purposes. Cases of severe acute contact dermatitis due to NSO are poorly described, with no histologic description.Objectives To describe the clinical and histologic features of severe acute contact dermatitis due to NSO and investigate the components responsible for such eruptions.Design, Setting, and Participants A case series study of 3 patients with contact dermatitis admitted to the dermatology department between August 21, 2009, and February 19, 2017, was conducted. All patients had been referred to the dermatology department for acute contact dermatitis due to NSO and had patch tests performed.Main Outcomes and Measures Clinical and histologic features of the cutaneous eruptions, length of hospital stay, chemical analysis of NSO, and results of patch tests.Results Three patients (3 women; median age, 27 years [range, 20-47 years]) were included in the case series. All patients had polymorphic skin lesions spreading beyond the area of NSO application: typical and atypical targets, patches with central blisters, erythematous or purpuric plaques with a positive Nikolsky sign mimicking Stevens-Johnson syndrome, or toxic epidermal necrolysis. Two patients had pustules. They had severe impairment, with more than 15% skin detachment and fever. The results of skin biopsies showed epidermal apoptosis characterized by vacuolar alteration of the basal layer, keratinocyte apoptosis, and a moderate perivascular infiltrate of lymphocytes in the dermis. The results of patch tests using the patients’ NSO were all positive. The results of gas chromatography combined with mass spectrometry performed on the NSO of 1 patient identified several constituent substances, mainly terpenes, thymoquinone, linoleic acid, and fatty acids.Conclusions and Relevance These cases suggest that acute contact dermatitis due to NSO may induce topically triggered epidermal apoptosis, previously described as the concept of acute syndrome of apoptotic pan epidermolysis. Thymoquinone and p-cymene may be the main agents involved in the pathophysiologic characteristics of this acute contact dermatitis. Clinicians should be aware of such severe reactions to NSO and report these cases to pharmacovigilance authorities.
Published: 2018

30. Cyclosporine for Epidermal Necrolysis: Absence of Beneficial Effect in a Retrospective Cohort of 174 Patients-Exposed/Unexposed and Propensity Score-Matched Analyses

Author: Camille Hua, Tu Anh Duong, A. Colin, Laurence Fardet, L. Le Cleach, Emilie Sbidian, Olivier Chosidow, Pierre Wolkenstein, O. Gaudin, Claire Hotz, Florence Poizeau, Ouidad Zehou, Nicolas de Prost, Saskia Ingen-Housz-Oro, Bénédicte Lebrun-Vignes, CHU Pontchaillou [Rennes], Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Dermatologie, Hopital Mondor, Assistance Publique des Hôpitaux de Paris, Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Assistance Publique des Hôpitaux de Paris, Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), CHU Henri Mondor, Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), PRES Université Paris-Est, Service de réanimation médicale, Centre Régional de Pharmacovigilance (CRPV), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Département de dermatologie, hôpital Henri Mondor, Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), and VO, alexandra
Subjects: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Randomization, Palliative care, Dermatology, Biochemistry, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Re-Epithelialization, Internal medicine, Epidemiology, medicine, Humans, Treatment Failure, Propensity Score, Molecular Biology, Survival analysis, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Skin, Body surface area, business.industry, Palliative Care, Retrospective cohort study, Cell Biology, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, Acute Kidney Injury, Middle Aged, medicine.disease, Survival Analysis, Toxic epidermal necrolysis, 030104 developmental biology, Stevens-Johnson Syndrome, Propensity score matching, Cyclosporine, Disease Progression, Female, business, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Immunosuppressive Agents
Abstract: Cyclosporine has shown promising results for mortality in patients with Stevens-Johnson syndrome/toxic epidermal necrolysis. However, available studies included only a small number of patients and did not include a validated and homogenous control group. We present the results from a retrospective monocentric study including 174 patients with Stevens-Johnson syndrome/toxic epidermal necrolysis during 2005–2016. Among them, 95 received cyclosporine (3 mg/kg/day) plus supportive care, and 79 received supportive care only. Both a traditional exposed/unexposed method and a propensity score-matching method were used to compare the progression of skin detachment between day 0 and day 5, the proportion of patients with cutaneous re-epithelialization starting on day 5 or mucosal re-epithelialization on day 10, the duration of progression, and the number of deaths between the two groups. None of these outcomes significantly favored cyclosporine, either by the exposed/unexposed method or the propensity score method. Acute renal failure affected more patients receiving cyclosporine (P = 0.05). Overall, the results of this epidemiological study did not show a beneficial effect of cyclosporine in patients with Stevens-Johnson syndrome/toxic epidermal necrolysis. They are discordant with those previously published. The large number of patients and the use of a propensity score method provide valuable insights. The main limitation of the study is the lack of randomization.
Published: 2017

31. Main Characteristics of Zika Virus Exanthema in Guadeloupe

Author: Frédérique Delion, Xavier Birembaux, Cécile Herrmann Storck, Hugo Chaumont, Olivier Chosidow, Benoit Tressières, Nadège Cordel, Service de Dermatologie et Médecine Interne [Pointe-à-Pitre, Guadeloupe], CHU Pointe-à-Pitre/Abymes [Guadeloupe], Pédiatrie [Basse Terre, Guadeloupe], Centre Médico Social de Basse Terre [Guadeloupe], Service de Neurologie [Pointe-à-Pitre, Guadeloupe], Service de Pédiatrie [Pointe-à-Pitre, Guadeloupe], Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Antilles-Guyane (CIC - Antilles Guyane), Université des Antilles et de la Guyane (UAG)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -CHU de Fort de France-Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française], Laboratoire de Microbiologie [Pointe-à-Pitre, Guadeloupe], none, CHU de Fort de France-Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française]-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -Institut National de la Santé et de la Recherche Médicale (INSERM)-Université des Antilles et de la Guyane (UAG), and Centre d'Investigation Clinique Antilles Guyane, Inserm CIC1424
Subjects: Adult, Male, Adolescent, MEDLINE, Dermatology, Zika virus, Disease Outbreaks, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Medicine, Humans, 030212 general & internal medicine, Child, Guadeloupe, ComputingMilieux_MISCELLANEOUS, biology, business.industry, Zika Virus Infection, Zika Virus, Exanthema, biology.organism_classification, Virology, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
Abstract: International audience;
Published: 2017

32. Prospective evaluation of frequency of signs of systemic sclerosis in 76 patients with morphea

Author: Lipsker, Dan, Bessis, Didier, Cosnes, Anne, Kluger, Nicolas, Lutz, Virginie, Sauleau, Erik, Francès, Camille, Herrada, Anthony, Service de dermatologie [Strasbourg], CHU Strasbourg, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service santé publique [CHU Strasbourg], Service de dermatologie et allergologie [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Adult, Aged, 80 and over, Male, Scleroderma, Systemic, Time Factors, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Adolescent, integumentary system, Middle Aged, Scleroderma, Localized, Young Adult, Case-Control Studies, Surveys and Questionnaires, Prevalence, Humans, Female, France, Prospective Studies, skin and connective tissue diseases, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Aged
Abstract: International audience; OBJECTIVES:Some authors consider that morphoea and systemic sclerosis (SSc) could be part of the same disease spectrum. The aim of this study was to analyse the prevalence of signs indicative of SSc in a cohort of patients with morphoea.METHODS:This is a prospective multi-centre study performed in four French academic dermatology departments: 76 patients with morphoea and 101 age- and sex-matched controls, who underwent complete clinical examination, were enrolled. A systemic search for signs indicative of SSc (e.g. Raynaud's phenomenon, reflux) was performed with the help of a standardised questionnaire.RESULTS:There were 58 women and 18 men (ration=3/1) with a median age of 59 years. Mean age at diagnosis was 54 years (extremes, 13-87). 49 subjects had plaque morphoea, 9 had generalised morphoea and 18 had linear morphoea. Mean duration of morphoea was 7.9 years. Signs possibly indicative of SSc were noted in four patients of the control group and in 8 patients with morphoea. This difference was not statistically significant (p=0.129). Further investigations ruled out SSc in all patients.CONCLUSIONS:Signs indicative of SSc are statistically not more frequently present in patients with morphoea than in controls and this study does not support the view that those 2 entities are part of a common disease spectrum.
Published: 2015

33. Utility of 18F-FDG PET with a Semi-Quantitative Index in the Detection of Sarcomatous Transformation in Patients with Neurofibromatosis Type 1

Author: Pierre Wolkenstein, Denis Mariano Goulart, Bernard Guillot, Francesco Giammarile, Patrick Combemale, Jean-Yves Blay, Stéphane Pinson, Thomas Mognetti, Laurence Valeyrie-Allanore, Passerieux, Emilie, Centre Léon Bérard [Lyon], Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Ciblage thérapeutique en Oncologie (EA3738), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Laboratoire de génétique humaine [CHU Herriot], Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Pathology, Epidemiology, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, lcsh:Medicine, Likelihood ratios in diagnostic testing, Clinical Epidemiology, Child, lcsh:Science, Multidisciplinary, medicine.diagnostic_test, Liver Neoplasms, Sarcoma, Middle Aged, 3. Good health, Cell Transformation, Neoplastic, Oncology, Liver, Positron emission tomography, Child, Preschool, Medicine, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Radiology, Cancer Epidemiology, Cancer Screening, Research Article, Adult, medicine.medical_specialty, Clinical Pathology, Neurofibromatosis 1, Adolescent, Clinical Research Design, [SDV.CAN]Life Sciences [q-bio]/Cancer, Malignancy, Text mining, [SDV.CAN] Life Sciences [q-bio]/Cancer, Diagnostic Medicine, Fluorodeoxyglucose F18, Cancer Detection and Diagnosis, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurofibromatosis, Retrospective Studies, Aged, Demography, business.industry, lcsh:R, Retrospective cohort study, Magnetic resonance imaging, medicine.disease, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, Positron-Emission Tomography, lcsh:Q, business
Abstract: International audience; Background: Malignant peripheral nerve sheath tumors (MPNSTs) are a serious complications of neurofibromatosis type 1 associated with poor prognosis and deeper lesions can be difficult to diagnose. 18-FDG PET improves the detection of malignancies. However, the criteria for malignancy, notably the SUVmax threshold, are not standardized. Therefore, the aim of the study was to evaluate a semi-quantitative index for the reproducible detection of MPNST with FDG PET.Methods: It is a multicenter retrospective study conducted between 2000 to 2012. All patients with NF1 referred for suspected MPNST underwent PET. Since SUVmax was not available until 2004 in our centers, we had to settle for the semi-quantitative method used at that time, the uptake ratio between the tumor and the normal liver (T/L ratio) with 1.5 as the cut-off for malignancy. When dedicated PET with SUVmax became available, the semi-quantitative analysis of PET images remained, along with SUVmax.Results: 113 patients with 145 tumors were included. PET assessment revealed 65 suspected lesions with T/L >1.5 and among these, 40 were MPNSTs. 80 tumors were classified as non-suspicious, and 79 were benign. The 1.5 T/L cut-off had a negative predictive value (NPV) of 98,8% and a positive predictive value of 61,5%. The positive likelihood ratio (LR) was 4,059, the negative LR was 0,032 with 97% sensitivity and 76% specificity.Conclusions: This study, which is among the largest published, confirms the utility of PET for detecting NF1-associated MPNSTs. A semi-quantitative index, the T/L ratio with a cut-off of 1.5, allowed sensitive and specific differentiation of malignant from benign tumors better than SUVmax. When T/L was 1.5, there was a strong suspicion of malignancy. This semi-quantitative analytical method is as simple as SUVmax, but is more sensitive, more reproducible and non-user-dependent
Published: 2014

34. MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis

Author: Jennifer Varin, Pierre Wolkenstein, Dominique Vidaud, Mikael Hivelin, Ingrid Laurendeau, Eric Pasmant, Valérie Dumaine, Julien Masliah-Planchon, Laurent Lantieri, Béatrice Parfait, Nicolas Ortonne, Karen Leroy, Laurence Valeyrie-Allanore, Ivan Bièche, Michel Vidaud, Armelle Luscan, Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux (Inserm U745), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de pathologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Chirurgie plastique, reconstructrice et esthétique [Pompidou], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5), Service de chirurgie plastique et reconstructive [Mondor], Laboratoire d'Investigation Clinique (LIC), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], Service d'orthopédie [CHU Cochin], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d'Oncogénétique, CRLCC René Huguenin-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut Curie [Paris], This work was supported in part by grants from Association Neurofibromatoses et Recklinghausen, and Ligue Française Contre les Neurofibromatoses., BMC, Ed., Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux ( Inserm U745 ), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement ( IFR71 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Européen Georges Pompidou [APHP] ( HEGP ) -Université Paris Descartes - Paris 5 ( UPD5 ), Laboratoire d'Investigation Clinique ( LIC ), Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), and CRLCC René Huguenin-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-INSTITUT CURIE
Subjects: Ribonuclease III, PTEN, Neurofibromatosis 1, Time Factors, Tumor suppressor gene, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, MPNST, Plexiform neurofibroma, Cell Line, Tumor, Sequence Homology, Nucleic Acid, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], microRNA, Genetics, medicine, Cluster Analysis, Humans, Neurofibroma, Neurofibromatosis, 030304 developmental biology, Neurofibroma, Plexiform, 0303 health sciences, Gene Expression Profiling, PTEN Phosphohydrolase, Proteins, RNA-Binding Proteins, medicine.disease, Gene expression profiling, MicroRNAs, [ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], NF1, 030220 oncology & carcinogenesis, Argonaute Proteins, Cancer research, biology.protein, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Carcinogenesis, Research Article, Signal Transduction, Biotechnology, Neurofibromatosis type 1
Abstract: Background Neurofibromatosis type 1 (NF1) is a common dominant tumor predisposition syndrome affecting 1 in 3,500 individuals. The hallmarks of NF1 are the development of peripheral nerve sheath tumors either benign (dermal and plexiform neurofibromas) or malignant (MPNSTs). Results To comprehensively characterize the role of microRNAs in NF1 tumorigenesis, we analyzed 377 miRNAs expression in a large panel of dermal and plexiform neurofibromas, and MPNSTs. The most significantly upregulated miRNA in plexiform neurofibromas was miR-486-3p that targets the major tumor suppressor gene, PTEN. We confirmed PTEN downregulation at mRNA level. In plexiform neurofibromas, we also report aberrant expression of four miRNAs involved in the RAS-MAPK pathway (miR-370, miR-143, miR-181a, and miR-145). In MPNSTs, significant deregulated miRNAs were involved in PTEN repression (miR-301a, miR-19a, and miR-106b), RAS-MAPK pathway regulation (Let-7b, miR-195, and miR-10b), mesenchymal transition (miR-200c, let-7b, miR-135a, miR-135b, and miR-9), HOX genes expression (miR-210, miR-196b, miR-10a, miR-10b, and miR-9), and cell cycle progression (miR-195, let-7b, miR-20a, miR-210, miR-129-3p, miR-449a, and miR-106b). Conclusion We confirmed the implication of PTEN in genesis of plexiform neurofibromas and MPNSTs in NF1. Markedly deregulated miRNAs might have potential diagnostic or prognostic value and could represent novel strategies for effective pharmacological therapies of NF1 tumors.
Published: 2013

35. Quick and Easy Screening for Vitamin D Insufficiency in Adults

Author: Mélanie Deschasaux, Valentina A. Andreeva, Mathilde Touvier, Nathalie Druesne-Pecollo, Khaled Ezzedine, Angela Sutton, Fabien Szabo de Edelenyi, Nathalie Charnaux, Serge Hercberg, Jean-Claude Souberbielle, Paule Latino-Martel, Pilar Galan, Emmanuelle Kesse-Guyot, Deschasaux-Tanguy, Mélanie, Equipe 3: EREN- Equipe de Recherche en Epidémiologie Nutritionnelle (CRESS - U1153), Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d’explorations fonctionnelles [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hémostase, bio-ingénierie et remodelage cardiovasculaires (LBPC), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Institut Galilée-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), French Research Institute for Public Health IRESPN8AAR201206, Canceropole Ile-de-France, Paris region, Ezzedine, Khaled, Touvier, Mathilde, Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Université Paris Diderot - Paris 7 (UPD7)-Université Paris 13 (UP13)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Galilée, Hôpital Jean Verdier [Bondy], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
Subjects: Male, 0301 basic medicine, Vitamin, medicine.medical_specialty, 030209 endocrinology & metabolism, Risk Assessment, Diagnostic Accuracy Study, vitamin D deficiency, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Positive predicative value, Internal medicine, medicine, Vitamin D and neurology, Humans, Mass Screening, Mass screening, 2. Zero hunger, 030109 nutrition & dietetics, Primary Health Care, Receiver operating characteristic, business.industry, General Medicine, Odds ratio, Middle Aged, Vitamin D Deficiency, medicine.disease, 3. Good health, Surgery, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, chemistry, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Cohort, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, Algorithms, Research Article
Abstract: Supplemental Digital Content is available in the text, Vitamin D is essential regarding several health outcomes. Prevention of insufficiency (25-hydroxyvitamin D concentration ≤20 ng/mL) generally entails blood testing and/or supplementation, strategies that should target at-risk individuals because blood testing is costly, and unwarranted supplementation could result in vitamin D overload with unknown long-term consequences. Our objective was to develop a simple score (Vitamin D Insufficiency Prediction score, VDIP) for identifying adults at risk of vitamin D insufficiency. Subjects were 1557 non–vitamin D-supplemented middle-aged adults from the SU.VI.MAX cohort. Scoring points corresponded to the rounded odds ratio for each individual-level characteristic associated with vitamin D insufficiency in a multivariable logistic regression model. Receiver operating characteristic curve (area under curve), sensitivity, specificity, and positive and negative predictive values were computed. External validation was performed in an independent cohort (NutriNet-Santé, N = 781). For female sex, overweight, low physical activity, winter season, moderate sun exposure, and very fair or dark skin 1.5 points were attributed; 2 points for latitude ≥48°N and spring season; 2.5 points for obesity and late winter; 3 points for low sun exposure. Points were then summed up for each participant. The VDIP score had an AUC = 0.70 ± 0.01 (validation: 0.67 ± 0.02). With a score of 7 or more, 70% of the participants were vitamin D-insufficient (80% in those with a score ≥9), sensitivity/specificity were 0.67/0.63, and positive and negative predictive values were 0.70/0.59. The VDIP score performed well in identifying middle-aged adults at risk of vitamin D insufficiency (score ≥7, moderate risk; score≥9, high risk), using only simple individual-level characteristics easily assessable in day-to-day clinical practice. Implementation of this simple and costless score could thus obviate unwarranted supplementation and/or blood testing.
Published: 2016

36. Death ligand TRAIL, secreted by CD1a+ and CD14+ cells in blister fluids, is involved in killing keratinocytes in toxic epidermal necrolysis.: TRAIL in toxic epidermal necrolysis

Author: De Araujo, Elisabeth, Dessirier, Valérie, Laprée, Geneviève, Valeyrie-Allanore, Laurence, Ortonne, Nicolas, Stathopoulos, Efstathios, Bagot, Martine, Bensussan, Armand, Mockenhaupt, Maja, Roujeau, Jean-Claude, Tsapis, Andreas, Immunologie, dermatologie, oncologie, Oncodermatologie, immunologie et cellules souches cutanées (IDO (U976 / UMR_S 976)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Maladies auto-immunes et maladies systémiques rares, Hôpital Henri Mondor, Département de pathologie [Mondor], Department of Pathology, University of Crete [Heraklion] (UOC)-School of Medicine, Dokumentationszentrum Schwerer Hautreaktionen (dZh), VU University Medical Center [Amsterdam], this study was funded by grants for the RegiSCAR study (European Commission (QLRT-2002-01738), ORPHANET, GIS-Institut des Maladies Rares in France, DFG (FOR 534) in Germany and a consortium of pharmaceutical companies including Bayer Vital, Boehringer-Ingelheim, GlaxoSmithKline, MSD Sharp & Dohme, Merck, Novartis, Pfizer, Roche, Sanofi-Aventis, Servier). The imaging department is supported by grants from the Conseil Regional d'Ile-de-France, the Canceropôle Ile-de-France and the Ministère de la Recherche., and Guellaen, Georges
Subjects: skin, integumentary system, TNFSF superfamily, apoptosis, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, cytotoxicity, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, human
Abstract: International audience; Toxic epidermal necrolysis (TEN) is characterized by an acute detachment and destruction of keratinocytes, affecting large areas of the skin. It is often related to adverse drug reactions. Previous studies have shown that effector CD8+ T cells, which accumulate in the blister fluid, are functionally cytotoxic and act through a classical perforin/granzyme B pathway. It has recently been shown that these cytotoxic T cells also secrete granulysin peptide, which is lethal to keratinocytes. These cytotoxic T cells exert their killer activity against autologous keratinocytes in the presence of the drug. However, they are unlikely to be the only effectors of TEN. We therefore searched for soluble death factors in the blister fluids that might kill keratinocytes. We found that the amounts of interferon-γ, TRAIL and TNF-α proteins were significantly greater in TEN blister fluids than in all controls (normal sera, TEN sera, burns and Eosinophilic pustular folliculitis blister fluids) and TNF-like weak inducer of apoptosis (TWEAK) amounts are also greater in all controls except burns. We showed that these proteins acted in synergy to induce the death of keratinocytes in vitro. We also found that TRAIL and TWEAK were secreted by CD1a+ and CD14+ cells present in the blister fluids. Thus, in addition to MHC class I-restricted cytotoxic T lymphocytes (CTLs), which lyse keratinocytes, ligands secreted by non-lymphoid cells capable of inducing keratinocyte death in an MHC class I-independent manner, also seem to be present in the blister fluids of patients with TEN.
Published: 2011

37. Death ligand TRAIL, secreted by CD1a+ and CD14+ cells in blister fluids, is involved in killing keratinocytes in toxic epidermal necrolysis.: TRAIL in toxic epidermal necrolysis

Author: Elisabeth de Araujo, Andreas Tsapis, Martine Bagot, Nicolas Ortonne, Genevieve Lapree, Jean-Claude Roujeau, Laurence Valeyrie-Allanore, Maja Mockenhaupt, Armand Bensussan, Efstathios N. Stathopoulos, Valérie Dessirier, Immunologie, dermatologie, oncologie, Oncodermatologie, immunologie et cellules souches cutanées (IDO (U976 / UMR_S 976)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Maladies auto-immunes et maladies systémiques rares, Hôpital Henri Mondor, Département de pathologie [Mondor], Department of Pathology, University of Crete [Heraklion] (UOC)-School of Medicine, Dokumentationszentrum Schwerer Hautreaktionen (dZh), VU University Medical Center [Amsterdam], and this study was funded by grants for the RegiSCAR study (European Commission (QLRT-2002-01738), ORPHANET, GIS-Institut des Maladies Rares in France, DFG (FOR 534) in Germany and a consortium of pharmaceutical companies including Bayer Vital, Boehringer-Ingelheim, GlaxoSmithKline, MSD Sharp & Dohme, Merck, Novartis, Pfizer, Roche, Sanofi-Aventis, Servier). The imaging department is supported by grants from the Conseil Regional d'Ile-de-France, the Canceropôle Ile-de-France and the Ministère de la Recherche.
Subjects: skin, Dermatology, Biochemistry, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Antigen, MHC class I, medicine, Cytotoxic T cell, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, human, Granulysin, Molecular Biology, Cytokine TWEAK, 030304 developmental biology, 0303 health sciences, biology, integumentary system, apoptosis, 3. Good health, Granzyme B, medicine.anatomical_structure, TNFSF superfamily, Immunology, biology.protein, Cancer research, cytotoxicity, Keratinocyte, CD8
Abstract: International audience; Toxic epidermal necrolysis (TEN) is characterized by an acute detachment and destruction of keratinocytes, affecting large areas of the skin. It is often related to adverse drug reactions. Previous studies have shown that effector CD8+ T cells, which accumulate in the blister fluid, are functionally cytotoxic and act through a classical perforin/granzyme B pathway. It has recently been shown that these cytotoxic T cells also secrete granulysin peptide, which is lethal to keratinocytes. These cytotoxic T cells exert their killer activity against autologous keratinocytes in the presence of the drug. However, they are unlikely to be the only effectors of TEN. We therefore searched for soluble death factors in the blister fluids that might kill keratinocytes. We found that the amounts of interferon-γ, TRAIL and TNF-α proteins were significantly greater in TEN blister fluids than in all controls (normal sera, TEN sera, burns and Eosinophilic pustular folliculitis blister fluids) and TNF-like weak inducer of apoptosis (TWEAK) amounts are also greater in all controls except burns. We showed that these proteins acted in synergy to induce the death of keratinocytes in vitro. We also found that TRAIL and TWEAK were secreted by CD1a+ and CD14+ cells present in the blister fluids. Thus, in addition to MHC class I-restricted cytotoxic T lymphocytes (CTLs), which lyse keratinocytes, ligands secreted by non-lymphoid cells capable of inducing keratinocyte death in an MHC class I-independent manner, also seem to be present in the blister fluids of patients with TEN.
Published: 2011

38. Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe

Author: Génin , Emmanuelle, Schumacher , Martin, Roujeau , Jean-Claude, Naldi , Luigi, Liss , Yvonne, Kazma , Rémi, Sekula , Peggy, Hovnanian , Alain, Mockenhaupt , Maja, Variabilité Génétique et Maladies Humaines, Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut Universitaire d'Hématologie ( IUH ), Université Paris Diderot - Paris 7 ( UPD7 ), Institute of Medical Biometry and Medical Informatics, University Medical Center, Différenciation, interaction, activation et migration des sous-populations lymphocitaires humaines, Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Department of dermatology, Milano University-Azienda Ospedaleria Ospedali Riuniti di Bergamo, Dokumentationszentrum schwerer Hautreaktionen ( dZh ), Department of Dermatology, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), and The RegiSCAR-study was funded by grants from the European Commission (QLRT-2002-01738), GIS-Institut des Maladies Rares and INSERM (4CH09G) in France, and by a consortium of pharmaceutical companies (Bayer Vital, Boehringer-Ingelheim, Cephalon, GlaxoSmithKline, MSD Sharp and Dohme, Merck, Novartis, Pfizer, Roche, Sanofi-Aventis, Servier).
Subjects: stomatognathic diseases, [ SDV.GEN ] Life Sciences [q-bio]/Genetics
Abstract: International audience; UNLABELLED: ABSTRACT: BACKGROUND: Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but extremely severe cutaneous adverse drug reactions in which drug-specific associations with HLA-B alleles were described. OBJECTIVES: To investigate genetic association at a genome-wide level on a large sample of SJS/TEN patients. METHODS: We performed a genome wide association study on a sample of 424 European cases and 1,881 controls selected from a Reference Control Panel. RESULTS: Six SNPs located in the HLA region showed significant evidence for association (OR range: 1.53-1.74). The haplotype formed by their risk allele was more associated with the disease than any of the single SNPs and was even much stronger in patients exposed to allopurinol (ORallopurinol = 7.77, 95%CI = [4.66; 12.98]). The associated haplotype is in linkage disequilibrium with the HLA-B*5801 allele known to be associated with allopurinol induced SJS/TEN in Asian populations. CONCLUSION: The involvement of genetic variants located in the HLA region in SJS/TEN is confirmed in European samples, but no other locus reaches genome-wide statistical significance in this sample that is also the largest one collected so far. If some loci outside HLA play a role in SJS/TEN, their effect is thus likely to be very small.
Published: 2011

39. Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

Author: Emilie Sbidian, Diana Rodriguez, Michel Zerah, Isabelle Kemlin, Laurence Valeyrie-Allanore, Tu Anh Duong, Sylvie Bastuji-Garin, Cédric Vialette, Smail Hadj-Rabia, Stanislas Lyonnet, Pierre Wolkenstein, Christophe Glorion, Salah Ferkal, BMC, Ed., Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Pôle Recherche Clinique-Santé Publique [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Laboratoire d'Investigation Clinique (LIC), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre de référence des Neurofibromatoses, Unité Recherche Clinique, CIC - CHU Henri Mondor, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de chirurgie orthopédique, Service de Génétique Médicale [CHU Necker], Service de Neurochirurgie, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), We thank ' Association Neurofibromatoses et Recklinghausen ' and ' Ligue française de lutte contre les Neurofibromatoses ' for them support for this study., Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Henri-Mondor, Laboratoire d'Investigation Clinique ( LIC ), Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service de neuropédiatrie [Trousseau], CHU Necker - Enfants Malades [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, lcsh:Medicine, [SDV.GEN] Life Sciences [q-bio]/Genetics, Nerve Sheath Neoplasms, Cohort Studies, 0302 clinical medicine, Risk Factors, Cause of Death, Medicine, Genetics(clinical), Pharmacology (medical), Young adult, Child, Genetics (clinical), Cause of death, Medicine(all), Aged, 80 and over, 0303 health sciences, education.field_of_study, General Medicine, Middle Aged, 3. Good health, 030220 oncology & carcinogenesis, Child, Preschool, Cohort, Female, France, Cohort study, Adult, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Population, 03 medical and health sciences, Young Adult, Life Expectancy, Internal medicine, Genes, Neurofibromatosis 1, Humans, education, 030304 developmental biology, Aged, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Research, lcsh:R, Retrospective cohort study, Confidence interval, Standardized mortality ratio, business, [ SDV.GEN ] Life Sciences [q-bio]/Genetics
Abstract: Background Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim was to evaluate mortality in a large retrospective cohort of NF1 patients seen in France between 1980 and 2006. Methods Consecutive NF1 patients referred to the National French Referral Center for Neurofibromatoses were included. The standardized mortality ratio (SMR) with its 95% confidence interval (CI) was calculated as the ratio of observed over expected numbers of deaths. We studied factors associated with death and causes of death. Results Between 1980 and 2006, 1895 NF1 patients were seen. Median follow-up was 6.8 years (range, 0.4-20.6). Vital status was available for 1226 (65%) patients, of whom 1159 (94.5%) survived and 67 (5.5%) died. Overall mortality was significantly increased in the NF1 cohort (SMR, 2.02; CI, 1.6-2.6; P < 10-4). The excess mortality occurred among patients aged 10 to 20 years (SMR, 5.2; CI, 2.6-9.3; P < 10-4) and 20 to 40 years (SMR, 4.1; 2.8-5.8; P < 10-4). Significant excess mortality was found in both males and females. In the 10-20 year age group, females had a significant increase in mortality compared to males (SMR, 12.6; CI, 5.7-23.9; and SMR, 1.8; CI, 0.2-6.4; respectively). The cause of death was available for 58 (86.6%) patients; malignant nerve sheath tumor was the main cause of death (60%). Conclusions We found significantly increased SMRs indicating excess mortality in NF1 patients compared to the general population. The definitive diagnosis of NF1 in all patients is a strength of our study, and the high rate of death related to malignant transformation is consistent with previous work. The retrospective design and hospital-based recruitment are limitations of our study. Mortality was significantly increased in NF1 patients aged 10 to 40 years and tended to be higher in females than in males.
Published: 2011

40. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Author: Dominique Vidaud, Michel Vidaud, Jean Soulier, Marc Sanson, Eric Pasmant, Marie-José Hamel, Meena Upadhyaya, Sébastien Barbarot, Hélène Dollfus, Salah Ferkal, Gillian Spurlock, Béatrice Parfait, Anne Dieux-Coeslier, Bertrand Isidor, Ingrid Laurendeau, Audrey Sabbagh, Elisa Grillo, Diana Rodriguez, Ivan Bièche, Ludovic Martin, Didier Lacombe, Pierre Wolkenstein, Laurent Pasquier, B. Leheup, Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux ( Inserm U745 ), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement ( IFR71 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Medical Genetics, Institute of Medical Genetics, Service de Biochimie et Génétique Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Hôpital Beaujon, Department of Dermatology, Université d'Angers ( UA ), Service de Dermatologie, Hôtel Dieu, CHU de Nantes, Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Affections de la Myeline et des Canaux Ioniques Musculaires, Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Pellegrin Hospital, Laboratoire de Génétique Médicale EA 3949, Faculté de Médecine de Strasbourg, Université de Strasbourg, Génétique et Développement, Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -IFR97-Centre National de la Recherche Scientifique ( CNRS ), Service de Génétique Médicale, CIC - CHU Henri Mondor, Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), 3UMR728 INSERM Unité d'immuno-hématologie (UIH) and laboratoire d'hématologie, Hôpital St-Louis, AP-HP, Département de neurologie 2 - Mazarin, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Center for Clinical Genetics, Hôpital Jeanne de Flandre [Lille], Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Cardiff University, Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux (Inserm U745), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université d'Angers (UA), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-IFR97-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), UPMC - Département de neurologie 2 - Mazarin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-IFR97-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL (ENSCP)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL (ENSCP)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Beaujon-Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
Subjects: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Genotype, [SDV]Life Sciences [q-bio], Biology, medicine.disease_cause, Contiguous gene syndrome, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Neurofibromatosis, 10. No inequality, neoplasms, Genetic Association Studies, Genetics (clinical), Sequence Deletion, 030304 developmental biology, Comparative Genomic Hybridization, 0303 health sciences, Mutation, Neurofibromin 1, [ SDV ] Life Sciences [q-bio], Gene Expression Profiling, Breakpoint, Life Sciences, Middle Aged, medicine.disease, Phenotype, eye diseases, nervous system diseases, Gene expression profiling, Regression Analysis, Female, 030217 neurology & neurosurgery, Comparative genomic hybridization
Abstract: International audience; In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP–c for the 1.4 Mb type-1 microdeletion, and SUZ12 and SUZ12P for the 1.2 Mb type-2 microdeletion). A more severe phenotype is usually associated with NF1 microdeletion patients than in those with intragenic mutations. We characterized NF1 microdeletions in 70 unrelated NF1 microdeleted patients using a high-resolution NF1 custom array comparative genomic hybridization (CGH). Genotype-phenotype correlations were studied in 58 of these microdeletion patients and compared to 389 patients with intragenic truncating NF1 mutations and phenotyped in the same standardized way. Our results confirmed in an unbiased manner the existence of a contiguous gene syndrome with a significantly higher incidence of learning disabilities and facial dysmorphism in microdeleted patients compared to patients with intragenic NF1 mutations. Microdeleted NF1 patients also showed a trend toward significance for childhood overgrowth. High-resolution array-CGH identified a new recurrent ~1.0 Mb microdeletion type, designated as type-3, with breakpoints in the paralogous regions middle NF1-REP-b and distal NF1-REP–c.
Published: 2010

41. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Author: E Pasmant, A Sabbagh, N Hanna, J Masliah-Planchon, E Jolly, P Goussard, P Ballerini, F Cartault, S Barbarot, J Landman-Parker, N Soufir, B Parfait, M Vidaud, P Wolkenstein, D Vidaud, R N F France, Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux (Inserm U745), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie et Génétique Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de génétique, Centre hospitalier Félix Guyon, Bellepierre, Service de dermatologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de biochimie hormonale, métabolique et génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux ( Inserm U745 ), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement ( IFR71 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Hôpital Beaujon, Service d'hématologie-immunologie-oncologie pédiatrique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Université de Nantes ( UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Assistance publique - Hôpitaux de Paris (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), and Peer, Hal
Subjects: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, DNA Mutational Analysis, education, Gene Dosage, medicine.disease_cause, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Molecular genetics, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Neurofibromatosis, Child, Germ-Line Mutation, Genetics (clinical), Adaptor Proteins, Signal Transducing, Aged, 030304 developmental biology, Aged, 80 and over, Legius syndrome, 0303 health sciences, Mutation, Neurofibromin 1, biology, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Middle Aged, medicine.disease, Phenotype, Pedigree, 3. Good health, nervous system diseases, Endocrinology, Child, Preschool, biology.protein, Female, 030217 neurology & neurosurgery
Abstract: Germline loss-of-function mutations in the SPRED1 gene have recently been identified in patients fulfilling the National Institutes of Health (NIH) diagnostic criteria for neurofibromatosis type 1 (NF1) but with no NF1 (neurofibromin 1) mutation found, suggesting a neurofibromatosis type 1-like syndrome.61 index cases with NF1 clinical diagnosis but no identifiable NF1 mutation were screened for SPRED1 mutation.We describe one known SPRED1 mutation (c.190CT leading to p.Arg64Stop) and four novel mutations (c.637CT leading to p.Gln213Stop, c.2TC leading to p.Met1Thr, c.46CT leading to p.Arg16Stop, and c.1048_1060del leading to p.Gly350fs) in five French families. Their NF1-like phenotype was characterised by a high prevalence of café-au-lait spots, freckling, learning disability, and an absence of neurofibromas and Lisch nodules in agreement with the original description. However, we did not observe Noonan-like dysmorphy. It is noteworthy that one patient with the p.Arg16Stop mutation developed a monoblastic acute leukaemia.In our series, SPRED1 mutations occurred with a prevalence of 0.5% in NF1 patients and in 5% of NF1 patients displaying an NF1-like phenotype. SPRED1 mutated patients did not display any specific dermatologic features that were not present in NF1 patients, except for the absence of neurofibromas that seem to be a specific clinical feature of NF1. The exact phenotypic spectrum and the putative complications of this NF1 overlapping syndrome, in particular haematological malignancies, remain to be further characterised. NIH diagnostic criteria for NF1 must be revised in view of this newly characterised Legius syndrome in order to establish a specific genetic counselling.
Published: 2009

42. CD158K/KIR3DL2 transcript detection in lesional skin of patients with erythroderma is a tool for the diagnosis of Sézary syndrome

Author: Ortonne, Nicolas, Le Gouvello, Sabine, Mansour, Hicham, Poillet, Catherine, Martin, Nadine, Delfau-Larue, Marie-Hélène, Leroy, Karen, Farcet, Jean-Pierre, Bagot, Martine, Bensussan, Armand, Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Département de pathologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service d'immunologie biologique, Service de dermatologie [Mondor], and Guellaen, Georges
Subjects: MESH: Dermatitis, Exfoliative, T-plastin, RT-PCR, MESH: Phosphoproteins, MESH: Antibodies, Monoclonal, MESH: Biopsy, MESH: Skin, MESH: Diagnosis, Differential, CD158k/KIR3DL2, MESH: Cryopreservation, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: RNA, Messenger, MESH: Aged, MESH: Humans, MESH: Middle Aged, erythroderma, MESH: Alternative Splicing, MESH: Skin Neoplasms, MESH: Immunohistochemistry, MESH: Receptors, KIR2DL2, MESH: Male, Sézary syndrome, MESH: Tumor Markers, Biological, MESH: Sezary Syndrome, MESH: Female
Abstract: N.O and S.L.G. contributed equally as first authors; International audience; The distinction between S?ry syndrome (SS) and benign erythrodermic inflammatory diseases (EID) is difficult to make both clinically and on skin biopsies, since histomorphology can provide nonspecific results. New markers of circulating malignant S?ry cells have been recently described, especially CD158k/KIR3DL2 and T-plastin, but it has not been yet determined whether they could help in the diagnosis of erythroderma in skin samples. In this study, 13 frozen skin specimens from 10 SS patients and 26 from EID were analyzed for CD158k/KIR3DL2 expression using immunohistochemistry with AZ158 mAb, which also recognizes the monomeric CD158e/KIR3DL1 receptor. Although positive in all SS samples, immunohistochemistry appeared to not reliably discriminate between SS and EID. Therefore in all samples disclosing a significant staining with AZ158 mAb, CD158k/KIR3DL2, CD158e/KIR3DL1 and T-plastin mRNA expression were analyzed on the same skin specimen using conventional and/or quantitative real-time reverse transcription (RT)-PCR. Interestingly, only CD158k/KIR3DL2 transcripts were found to be significantly overexpressed in skin biopsies from patients with SS (P
Published: 2008

43. Recent discoveries in the genetics of melanoma and their therapeutic implications

Author: Nicolas Dumaz, Armand Bensussan, Martine Bagot, Amélie Marquette, Dumaz, Nicolas, Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Mondor], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
Subjects: MESH: Signal Transduction, Skin Neoplasms, MESH: Oncogenes, 0302 clinical medicine, MESH: Early Diagnosis, Immunology and Allergy, MESH: Animals, Melanoma, Genetics, 0303 health sciences, Raf kinase, General Medicine, Prognosis, 3. Good health, MESH: Proto-Oncogene Proteins c-kit, Proto-Oncogene Proteins c-kit, 030220 oncology & carcinogenesis, Melanocytes, raf Kinases, Surgical excision, Signal Transduction, MESH: Mutation, MAP Kinase Signaling System, MESH: Melanoma, Immunology, Pharmacology toxicology, Antineoplastic Agents, Biology, Article, MESH: Prognosis, 03 medical and health sciences, MESH: Melanocytes, medicine, Animals, Humans, MESH: raf Kinases, neoplasms, 030304 developmental biology, Advanced melanoma, MESH: Humans, MESH: MAP Kinase Signaling System, MESH: Skin Neoplasms, Oncogenes, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.disease, MESH: Genes, ras, Early Diagnosis, Genes, ras, Mutation, Cancer research, MESH: Antineoplastic Agents, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: The original publication is available at www.springerlink.com; International audience; The incidence of cutaneous malignant melanoma, tumors arising from melanocytes, has increased markedly over the past few years in many countries. Although early melanoma is curable through surgical excision, the prognosis of advanced melanoma is very poor, this tumor being resistant to current therapies. Thus there is a need for new therapies to improve the treatment of advanced melanoma. This review provides an overview of recent discoveries in the genetics of melanoma which could offer new therapeutic opportunities.
Published: 2007

44. CD158K/KIR3DL2 Transcript Detection in Lesional Skin of Patients with Erythroderma Is a Tool for the Diagnosis of Sézary Syndrome

Author: Hicham Mansour, Martine Bagot, Sabine Le Gouvello, Nadine Martin, Karen Leroy, Marie-Hélène Delfau-Larue, Catherine Poillet, Jean-Pierre Farcet, Armand Bensussan, Nicolas Ortonne, Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Département de pathologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service d'immunologie biologique, and Service de dermatologie [Mondor]
Subjects: Male, Pathology, Skin Neoplasms, Biopsy, MESH: Dermatitis, Exfoliative, T-plastin, Erythroderma, Biochemistry, MESH: Antibodies, Monoclonal, 030207 dermatology & venereal diseases, MESH: Biopsy, 0302 clinical medicine, Medicine, Skin, MESH: Aged, 0303 health sciences, Membrane Glycoproteins, MESH: Middle Aged, medicine.diagnostic_test, MESH: Alternative Splicing, Microfilament Proteins, Antibodies, Monoclonal, Middle Aged, Immunohistochemistry, 3. Good health, Real-time polymerase chain reaction, Receptors, KIR2DL2, Sézary syndrome, Monoclonal, MESH: Sezary Syndrome, Female, Dermatitis, Exfoliative, medicine.medical_specialty, RT-PCR, Dermatology, MESH: Phosphoproteins, Article, Diagnosis, Differential, 03 medical and health sciences, MESH: Skin, MESH: Diagnosis, Differential, CD158k/KIR3DL2, Biomarkers, Tumor, MESH: Cryopreservation, Humans, Sezary Syndrome, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, RNA, Messenger, Molecular Biology, Sezary Cell, Aged, 030304 developmental biology, MESH: RNA, Messenger, Cryopreservation, MESH: Humans, business.industry, erythroderma, MESH: Skin Neoplasms, Cutaneous T-cell lymphoma, MESH: Immunohistochemistry, Cell Biology, MESH: Receptors, KIR2DL2, Phosphoproteins, medicine.disease, MESH: Male, Alternative Splicing, Immunology, MESH: Tumor Markers, Biological, Differential diagnosis, business, MESH: Female
Abstract: N.O and S.L.G. contributed equally as first authors; International audience; The distinction between S?ry syndrome (SS) and benign erythrodermic inflammatory diseases (EID) is difficult to make both clinically and on skin biopsies, since histomorphology can provide nonspecific results. New markers of circulating malignant S?ry cells have been recently described, especially CD158k/KIR3DL2 and T-plastin, but it has not been yet determined whether they could help in the diagnosis of erythroderma in skin samples. In this study, 13 frozen skin specimens from 10 SS patients and 26 from EID were analyzed for CD158k/KIR3DL2 expression using immunohistochemistry with AZ158 mAb, which also recognizes the monomeric CD158e/KIR3DL1 receptor. Although positive in all SS samples, immunohistochemistry appeared to not reliably discriminate between SS and EID. Therefore in all samples disclosing a significant staining with AZ158 mAb, CD158k/KIR3DL2, CD158e/KIR3DL1 and T-plastin mRNA expression were analyzed on the same skin specimen using conventional and/or quantitative real-time reverse transcription (RT)-PCR. Interestingly, only CD158k/KIR3DL2 transcripts were found to be significantly overexpressed in skin biopsies from patients with SS (P
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45. At-Risk Phenotype of Neurofibromatose-1 Patients: A Multicentre Case-Control Study

Author: Sébastien Barbarot, Patrick Combemale, Alain Drouet, Laurence Valeyrie-Allanore, Pierre Brugière, Salah Ferkal, Emilie Sbidian, Pierre Wolkenstein, Sylvie Bastuji-Garin, Cédric Vialette, Jean Pascal Lefaucheur, Laboratoire d'Investigation Clinique (LIC), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Pôle Recherche Clinique-Santé Publique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre de référence des Neurofibromatoses, CIC - CHU Henri Mondor, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de physiologie, explorations fonctionnelles [Mondor], Excitabilité nerveuse et thérapeutique (ENT), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-EA 4391, Service de Physiologie Explorations Fonctionnelles-Hôpital Henri Mondor, Service de Neurologie, Hôpital d'Instruction des armées, Service de Dermatologie, Centre Léon Bérard [Lyon], Service de Neuroradiologie, Unité de recherche clinique, Réseau NF-Rhône-Alpin, CHU Hotel Dieu, Grant from the Programme Hospitalier de Recherche Clinique (PHRC, AOM05116/P051014), Ministry of Health., Hôpital Henri Mondor-EA 4391, Service de Physiologie Explorations Fonctionnelles-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), and BMC, Ed.
Subjects: Adult, Male, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Nerve root, lcsh:Medicine, [SDV.GEN] Life Sciences [q-bio]/Genetics, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Subcutaneous Tissue, Internal medicine, medicine, Neurofibroma, Humans, Genetics(clinical), Pharmacology (medical), Prospective Studies, Neurofibromatosis, Prospective cohort study, Genetics (clinical), 030304 developmental biology, Medicine(all), 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Research, lcsh:R, Case-control study, Peripheral Nervous System Diseases, General Medicine, Middle Aged, medicine.disease, Spinal cord, Magnetic Resonance Imaging, Radiography, medicine.anatomical_structure, Peripheral neuropathy, Phenotype, Case-Control Studies, Female, Sciatic nerve, business, 030217 neurology & neurosurgery
Abstract: Objectives To assess associations between subcutaneous neurofibromas (SC-NFs) and internal neurofibromas in patients with neurofibromatosis type 1 (NF-1) and to determine whether the association between SC-NFs and peripheral neuropathy was ascribable to internal neurofibromas. Patients and methods Prospective multicentre case-control study. Between 2005 and 2008, 110 NF-1 adults having two or more SC-NFs were individually matched for age, sex and hospital with 110 controls who had no SC-NF. Patients underwent standardized MRI of the spinal cord, nerve roots and sciatic nerves and an electrophysiological study. Analyses used adjusted multinomial logistic regression (ORa) to estimate the risk of the presence of internal neurofibromas or peripheral neuropathies associated with patients presented 2 to 9 SC-NFs, at least 10 SC-NFs as compared to patients without any (referential category). Results Cases had a mean age of 41 (± 13) years; 85 (80%) had two to nine SC-NFs and 21 (19%) at least ten SC-NFs. SC-NFs were more strongly associated with internal neurofibromas in patients with ten or more SC-NFs than in patients with fewer NF-SCs (e.g., sciatic nerve, aOR = 29.1 [8.5 to 100] vs. 4.3 [2.1 to 9.0]). The association with SC-NFs was stronger for diffuse, intradural, and > 3 cm internal neurofibromas than with other internal neurofibromas. Axonal neuropathy with slowed conduction velocities (SCV) was more strongly associated with having at least ten SC-NFs (aOR = 29.9, 5.5 to 162.3) than with having fewer SC-NFs (aOR = 4.4, 0.9 to 22.0). Bivariate analyses showed that the association between axonal neuropathy with SCV and sciatic neurofibromas was mediated by the association between SC-NFs and sciatic neurofibromas. Conclusion The at-risk phenotype of NF-1 patients (i.e. NF-1 patients with SC-NFs) is ascribable to associations linking SC-NFs to internal neurofibromas at risk for malignant transformation and to axonal neuropathies with slowed conduction velocities. Axonal neuropathies with SCV are particularly common in patients with at least ten SC-NFs. Registration details ORPHA86301
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