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Background: The arrival of biologics and small-molecule therapies (eg Janus kinase inhibitors) changed atopic dermatitis treatment, but older systemic treatments continue to be prescribed., Objective: To provide real-world effectiveness, safety, and adherence data for dupilumab, cyclosporine, and methotrexate., Methods: PEDIatric STudy in Atopic Dermatitis (NCT03687359) is a real-world, prospective, observational, 10-year study of children (<12 years) with inadequately controlled moderate-to-severe atopic dermatitis. We report 2-year interim results., Results: Median treatment durations were 8.1, 13.0, and 10.7 months for dupilumab (n = 144), methotrexate (n = 114), and cyclosporine (n = 121), respectively. Dupilumab had numerically greater within-group improvements than methotrexate and cyclosporine in Eczema Area and Severity Index (-12.4∗ vs -5.7∗ and -3.3); body surface area affected (-19.9%∗ vs -11.8%∗ and -8.8%∗); itching (night-time: -2.1∗ vs -0.4 and + 0.1; daytime: -1.5∗ vs +0.1 and + 0.2; ≥6 years); itching/scratching (-3.6∗ vs -1.4∗ and -0.2; <6 years); and Patient-Oriented Eczema Measure (-7.0∗ vs -4.7∗ and -1.5) (∗P < .05 within-group improvements from baseline). Dupilumab had less discontinuations (8.3% vs 28.9% and 43.0%) and adverse event(s) (18.1% vs 29.8% and 31.4%)., Limitations: No randomization, placebo, or specified dosages., Conclusion: Dupilumab was associated with numerically greater outcomes and higher adherence than cyclosporine or methotrexate., Competing Interests: Conflicts of interest Dr Paller has been an investigator, consultant, and/or data and safety monitoring board member for AbbVie, Abeona Therapeutics, Amryt Pharma, Azitra, BioCryst, BMS, Boehringer Ingelheim, Castle Creek Biosciences, Catawba Research, Dermavant, Eli Lilly, Galderma, InMed Pharmaceuticals, Incyte, Janssen, Krystal Biotech, LEO Pharma, Novartis, Regeneron Pharmaceuticals Inc, Sanofi, Seanergy, TWi Biotechnology, and UCB. Dr de Bruin-Weller has been a consultant, advisory board member, and/or speaker for AbbVie, Almirall, Amgen, Eli Lilly, Galderma, Janssen, LEO Pharma, Pfizer, Regeneron Pharmaceuticals Inc, and Sanofi Genzyme. Dr Marcoux has been an investigator for AbbVie, Amgen, Eli Lilly, Janssen, LEO Pharma, Novartis, Pfizer, and Regeneron Pharmaceuticals Inc. They have served as a consultant for AbbVie, Amgen, BMS, Eli Lilly, Janssen, LEO Pharma, Novartis, Pfizer, Regeneron Pharmaceuticals Inc, Sanofi Genzyme, and UCB, and is or has been a speaker for AbbVie, Amgen, BMS, Novartis, Pfizer, Regeneron Pharmaceuticals Inc, and Sanofi Genzyme. Dr Baselga has been an investigator for AbbVie, Boehringer Ingelheim, Dermira, Eli Lilly, LEO Pharma, Pfizer, and Novartis, and served as a consultant for Almirall, Galderma, Novartis, Pfizer, Pierre-Fabre, Regeneron Pharmaceuticals Inc, and Sanofi Genzyme. Dr Carvalho has been a speaker for Expanscience, Galderma, Johnson & Johnson Consumer Health, Mantecorp Skincare, Megalabs, and Royal Canin. They have been a consultant for Johnson & Johnson and have been an investigator for Sanofi. Dr Ardusso has been a consultant and/or advisory board member, and/or speaker for AstraZeneca, GSK, and Sanofi and has been an investigator for Novartis, Sanofi Genzyme, Amgen, Chiesi, AstraZeneca, Areteria, bellus, and Upstream Bio. Dr Pasmans has been a consultant, advisory board member, and or speaker for LEO Pharma, Pfizer, Regeneron, and Sanofi Genzyme. They have been an advisory board member, and or speaker or investigator for LEO Pharma, Regeneron Pharmaceuticals, Sanofi Genzyme, Novartis, Pierre Fabre, Boerhinger Ingelheim; have received grants from Novartis, Pierre Fabre, Micreos, BAP Medical, D&M B.V., and DeclaCare, Boerhinger Ingelheim, Ministry of Ministry of Health, Welfare and Sport, and ZonMW. Dr Toledo-Bahena has been a speaker for AbbVie, Pfizer, Expanscience, Panalab, Lilly, LEO Pharma, UCB, Faes Pharma, and Pierre Fabre, and has been an investigator for Pfizer, Lilly, Abbvie, and Sanofi. Dr Rubin has been a speaker for AbbVie, Amgen, Bayer, BMS, Castle Creek Biosciences, Celgene, Cutanea, Dermavant, DermTech, Galderma, Genentech, Helsinn, Incyte, LEO Pharma, Novartis, Ortho Dermatologics, Pfizer, Promius Pharma, Regeneron Pharmaceuticals Inc, Sanofi, Sun Pharma, and UCB; has served as a consultant for AbbVie, Allergan, Amgen, Biofrontera, Castle Creek Biosciences, Celgene, Dermavant, DermTech, Incyte, LEO Pharma, Novartis, Ortho Dermatologics, Pfizer, Promius, Regeneron Pharmaceuticals Inc, Sanofi, and UCB, and as an investigator for BMS, Cara Therapeutics, Castle Biosciences, DermTech, Janssen, LEO Pharma, and Sanofi. Dr Joyce has been a consultant for Pfizer and Sanofi, a speaker for Sanofi, and served as an investigator for AbbVie, Aclaris Therapeutics, Amgen, AstraZeneca, Bayer, BMS, Eli Lilly, Galderma, Incyte, Janssen, NFlection Therapeutics, Novartis, Pfizer, Sanofi, and UCB. Dr Wine Lee has been an advisory board member for Castle Creek Biosciences, Eli Lilly, Pfizer, Regeneron Pharmaceuticals Inc, and Verrica, has served as a consultant for AbbVie, Amryt Pharma, Kimberly-Clark, Krystal Biotech, Novartis, and Pyramid Biosciences, has been an investigator for AbbVie, Amgen, Amryt Pharma, Arcutis Biotherapeutics, Castle Creek Biosciences, Celgene, Eli Lilly, Galderma, Incyte, Mayne Pharmaceuticals, Novartis, Pfizer, Regeneron Pharmaceuticals Inc, Sanofi, Target Pharma, Trevi Therapeutics, and UCB, and a speaker for Amryt Pharma and Krystal Biotech. Dr Adams is an employee of Sanofi and may hold stock and/or stock options in the company. Dr Gupta is a consultant for Sanofi. Dr Ardeleanu is an employee and shareholder at Regeneron Pharmaceuticals Inc. Dr Zhang is an employee of Sanofi Genzyme and may hold stock and/or stock options in the company., (Copyright © 2024 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)

Introduction: Griseofulvin, discovered in 1939 and commercially available since 1959, was the first oral antifungal agent effective against dermatophytosis, particularly tinea capitis. Although it was eventually superseded by azole antifungals due to its long treatment duration and reliance on keratopoiesis, griseofulvin remains notable for its effectiveness and safety in treating tinea capitis, especially when caused by Microsporum canis . However, due to a decline in cases and commercial unavailability, alternative treatments are now required., Areas Covered: The following topics regarding to other treatments were discussed: (I) The efficacy of alternative antifungal agents such as terbinafine, itraconazole, and fluconazole, in the treatment of tinea capitis. (II) The use and role of topical therapies. (III) Experience in the management of tinea capitis., Expert Opinion: The usefulness of oral terbinafine as a replacement for griseofulvin in the treatment of tinea capitis and why it is the preferred drug in elderly patients was discussed. Challenges with Microsporum spp. and the use of fluconazole in pediatric patients were also analyzed. Support for the use of topical treatment as an adjunctive treatment for tinea capitis was highlighted.

Purpose of Review: Inflammatory tinea is an uncommon group of dermatophyte entities that predominantly cause fungal infection of the skin and hair. This review intends to present all of the available evidence regarding its epidemiology, etiopathogenesis, clinical features, and diagnostic methods as well as treatments recommended for various inflammatory tinea infections. This article provides a review of Majocchi's granuloma and dermatophytic or Hadida's disease., Recent Findings: The new phylogenetic classification of dermatophytes includes nine genera, and those that affect humans are Trichophyton , Microsporum , Epidermophyton , and Nannizzia . Furthermore, molecular advancements have revealed impaired antifungal immune responses caused by inflammatory tinea, which are detailed in this article., Summary: The common denominator in these pathologies is the presence of impaired immune responses and, consequently, an impaired inflammatory response by the host. It is necessary to be familiar with these immunological characteristics in order to use the appropriate diagnostic methods and to provide adequate treatment.

CDAGS Syndrome is a rare congenital disorder characterized by Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations. We performed whole exome and Sanger sequencing to identify the underlying molecular cause in five patients with CDAGS syndrome from four distinct families. Whole exome sequencing revealed biallelic rare variants that disrupt highly conserved nucleotides within the RNU12 gene. RNU12 encodes a small nuclear RNA that is a component of the minor spliceosome and is essential for minor intron splicing. Targeted sequencing confirmed allele segregation within the four families. All five patients shared the same rare mutation NC&#95;000022.10:g.43011402C>T, which alters a highly conserved nucleotide within the precursor U12 snRNA 3' extension. Each of them also carried a rare variant on the other allele that either disrupts the secondary structure or the Sm binding site of the RNU12 snRNA. Whole transcriptome sequencing analysis of lymphoblastoid cells identified 120 differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events in the patient. These findings provide evidence of the involvement of RNU12 in craniosynostosis, anal and genitourinary patterning, and cutaneous disease., (© 2021 Wiley Periodicals LLC.)

Introducción: El neuroblastoma es el tumor maligno más frecuente en el primer año de vida y el tumor sólido extracraneal más frecuente en la infancia. Solo el 1% de los casos debuta con metástasis cutáneas, caracterizadas por nódulos azulados subcutáneos. Se presenta el caso de un lactante con un neuroblastoma suprarrenal izquierdo en el que las metástasis cutáneas constituían el síntoma principal. Caso clínico: Lactante de sexo femenino, de 2 meses de edad, sin antecedentes de importancia para el padecimiento actual. Acudió por presentar dermatosis diseminada en la región cervical y occipital, el abdomen, el muslo derecho y el pie izquierdo. La dermatosis se caracteriza por nódulos subcutáneos, sólidos, bien delimitados, < 1 cm, de color azulado, que iniciaron su aparición a los 7 días de vida en el hipocondrio derecho, con crecimiento progresivo, asintomáticos. Se realizó biopsia de un nódulo y se reportó la presencia de células pequeñas con núcleo denso hipercromático, escaso citoplasma y dispuestas en nidos. La inmunohistoquímica fue positiva para cromogranina y enolasa neuronal específica. Los hallazgos fueron compatibles con metástasis cutánea de neuroblastoma. Se solicitó valoración y abordaje por oncología pediátrica, que reportó un estadio 4 de la enfermedad y se inició el tratamiento correspondiente. Conclusiones: Los pediatras y los dermatólogos pediatras son los primeros en atender a niños con alguna lesión cutánea. Se deben tener en cuenta las metástasis cutáneas, que pueden aparecer antes o simultáneamente al diagnóstico de un tumor primario. Por lo tanto, se debe realizar un correcto abordaje con el fin de mejorar el pronóstico y la calidad de vida del paciente.

Background: Ectodermal dysplasias are a group of genodermatoses characterized by dystrophy of ectodermal derived structures. The most frequent presentation of the ectodermal dysplasias is the hypohidrotic type, which has an incidence of 7/100,000 newborns and has been described in all ethnic groups. The hypohidrotic ectodermal dysplasia (HED) has different etiologies, and it is more frequently associated with an X-linked pattern of inheritance caused by pathogenic variants of the EDA gene in Xq13.1. EDA encodes the protein ectodisplasin A, a signal molecule which participates in epithelium and mesenchymal development of the skin., Case Report: A 6 year-old male patient with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. The direct sequencing analysis of EDA in our patient detected a de novo pathogenic variant, c.466C>T, p.Arg156Cys, rs132630313. This variant has been previously described in different ethnic groups, including Mexican families, and is considered a mutational hotspot. The clinical characteristics, etiology and management of the X-linked HED, including the possibility of prenatal therapy in order to avoid the clinical manifestations are discussed., Conclusions: The molecular analysis in patients with X-linked HED is of relevance, as it enables to confirm the clinical diagnosis and also, it allows a genetic assessment with molecular bases., (Copyright: © 2020 Permanyer.)

Background: The diagnostic approaches and therapeutic strategies of atopic dermatitis (AD) are generally inconsistent among physicians and health institutions., Objective: To develop a consensus statement among experts to reduce the variations in practice regarding the diagnosis and treatment of patients ≥ 12 years with AD to improve their care., Methods: Systematic literature search in PubMed and GREAT. With methodological support and using the Delphi method, a formal consensus was developed among 16 experts in Dermatology and Allergology, based on the current evidence and its applicability in the Mexican context. Apart from intense electronic communication, several issues of disagreement were discussed in two face-to-face meetings., Results: The clinical experts reached consensus on 46 statements related to the definition, classification, diagnostic strategies and treatment of AD. For the diagnosis we suggest the Williams criteria and for severity scoring the SCORAD (by the doctor) and POEM (by the patient). In addition to general care and treatment education (workshops), we suggest four steps for treatment, depending on severity: 1. Topical treatment with anti-inflammatory agents (and systemic: antihistamines/antileukotrienes -low level evidence-) 2. Phototherapy, 3. Cyclosporin A and 4. Dupilumab, with the possibility of managing this biological earlier on if a fast effect is needed. In extrinsic AD we suggest evaluating the addition of allergen immunotherapy or an elimination diet, if there is an IgE-mediated respiratory or food allergy, respectively., Conclusion: The panel of experts reached consensus on relevant aspects of AD with a focus on the transcultural adaptation of recent evidence.

Introduction: Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far., Case Report: The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping the second. At 4 months of age, she developed a disseminated dermatosis with erythematous scaly nummular plaques, elevated keratotic sharp borders with thin to broad flaking, hematic crusts, and keratotic surface in others. The lesions were slightly pruritic and began at the lower limbs with posterior dissemination to the upper limbs, head, and trunk; palms and soles were unaffected. A skin biopsy showed hyperkeratosis, parakeratosis, acanthosis, and perivascular inflammatory infiltration in the upper reticular dermis among other alterations. She also presented mild bilateral neurosensory hypoacusia and enamel dysplasia. Her karyotype was normal. Treatment with topical hydrating creams partially improved the skin lesions at their center, while the sharply keratotic borders remained, giving a clinical resemblance to porokeratosis., Discussion: The patient suffers from CDAGS syndrome but has normal development, and feet abnormality was described in only one other patient. The treatment with topical hydrating creams improved the skin lesions at their center, while porokeratotic characteristics persisted. CDAGS remains a diagnostic challenge; a comparison with previously reported cases is discussed. The timely detection of the syndrome will allow early treatment that may improve the condition of the patients., (© 2017 The International Society of Dermatology.)

Background: Tumour necrosis factor-α inhibitors, including infliximab (IFX), can improve disease control of plaque-type psoriasis., Objectives: The Real-World Assessment of Long-Term Infliximab Therapy for Psoriasis (REALITY) study evaluated the efficacy and safety of maintenance IFX therapy in typical clinical settings., Methods: In this prospective, observational, open-label, multicentre study in patients with plaque-type psoriasis, IFX 5 mg kg was infused at weeks 0, 2 and 6, and every 8 weeks thereafter during a 50-week treatment phase. The primary outcome was ≥ 75% Psoriasis Area and Severity Index (PASI) improvement from baseline to week 50. Patients with ≥ 25% PASI improvement from baseline to the end of the treatment phase were potentially eligible to enter a 48-week extended treatment phase. Response maintenance and other efficacy measures were evaluated. Adverse events (AEs) were collected., Results: In total 660 patients enrolled. Of 521 efficacy-evaluable treatment phase patients (66% male, mean age 46·5 years, mean PASI 18·1), 56·8% achieved PASI 75 at the end of the treatment phase. Response was maintained at week 50 by 64·7% (205/317) of patients who achieved PASI 75 at week 14. During extended treatment, 66·3% (112/169) of patients attained PASI 75 at week 98; response was maintained at week 98 by 71·6% (101/141) of those who achieved PASI 75 at week 50. IFX was generally well tolerated. During treatment, 7·6% (50/659) of patients had serious AEs. During extended treatment, 4·1% (eight of 193) of patients had serious AEs., Conclusions: PASI 75 response was achieved by 56·8% and 66·3% of patients at weeks 50 and 98, respectively. The AE pattern was consistent with previous reports., (© 2014 British Association of Dermatologists.)