21 results on '"Schmuth M"'
Search Results
2. Successful treatment of trichothiodystrophy with dupilumab.
- Author
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Gruber R, Zschocke A, Zellner H, and Schmuth M
- Subjects
- Child, Humans, Injections, Subcutaneous, Male, Receptors, Interleukin-13 antagonists & inhibitors, Antibodies, Monoclonal, Humanized therapeutic use, Interleukin-4 Receptor alpha Subunit antagonists & inhibitors, Trichothiodystrophy Syndromes drug therapy
- Published
- 2021
- Full Text
- View/download PDF
3. Advancing novel therapies for ichthyoses.
- Author
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Schmuth M, Reichelt J, and Gruber R
- Subjects
- Humans, Ichthyosis drug therapy
- Published
- 2021
- Full Text
- View/download PDF
4. Biologic drug survival rates in the era of anti-interleukin-17 antibodies: a time-period-adjusted registry analysis.
- Author
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Graier T, Salmhofer W, Jonak C, Weger W, Kölli C, Gruber B, Sator PG, Prillinger K, Mlynek A, Schütz-Bergmayr M, Richter L, Ratzinger G, Painsi C, Selhofer S, Häring N, Wippel-Slupetzky K, Skvara H, Trattner H, Tanew A, Inzinger M, Tatarski R, Bangert C, Ellersdorfer C, Lichem R, Gruber-Wackernagel A, Hofer A, Legat F, Schmiedberger E, Strohal R, Lange-Asschenfeldt B, Schmuth M, Vujic I, Hoetzenecker W, Trautinger F, Saxinger W, Müllegger R, Quehenberger F, and Wolf P
- Subjects
- Adalimumab, Austria, Cohort Studies, Etanercept, Female, Humans, Registries, Retrospective Studies, Survival Rate, Treatment Outcome, Ustekinumab, Biological Products, Psoriasis drug therapy
- Abstract
Background: Drug survival rates reflect efficacy and safety and may be influenced by the availability of alternative treatment options. Little is known about time-dependent drug survival in psoriasis and the effect of increasing numbers of biologic treatment options., Objectives: To determine whether drug survival is influenced by the availability of treatment options and by factors such as gender, psoriatic arthritis or previous biologic treatment., Methods: This observational, retrospective, multicentre cohort study analysed data from patients registered in the Austrian Psoriasis Registry (PsoRA) who were treated with biologics between 1 January 2015 and 30 November 2019., Results: A total of 1572 patients who received 1848 treatment cycles were included in this analysis. The highest long-term Psoriasis Area and Severity Index improvement was observed after treatment with ixekizumab, followed by ustekinumab and secukinumab, adalimumab and etanercept. Overall, ustekinumab surpassed all other biologics in drug survival up to 48 months. However, when adjusted for biologic naïvety, its superiority vanished and drug survival rates were similar for ixekizumab (91·6%), secukinumab (90·2%) and ustekinumab (92·8%), all of them superior to adalimumab (76·5%) and etanercept (71·9%) at 12 months and beyond. Besides biologic non-naïvety (2·10, P < 0·001), the introduction of a new drug such as secukinumab or ixekizumab (relative hazard ratio 1·6, P = 0·001) and female gender (1·50, P = 0·019) increased the risk of treatment discontinuation overall, whereas psoriatic arthritis did not (1·12, P = 0·21)., Conclusions: The time-dependent availability of drugs should be considered when analysing and comparing drug survival. Previous biologic exposure significantly influences drug survival. Women are more likely to stop treatment., (© 2021 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)
- Published
- 2021
- Full Text
- View/download PDF
5. Evidence for multi-copy Mega-NUMTs in the human genome.
- Author
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Lutz-Bonengel S, Niederstätter H, Naue J, Koziel R, Yang F, Sänger T, Huber G, Berger C, Pflugradt R, Strobl C, Xavier C, Volleth M, Weiß SC, Irwin JA, Romsos EL, Vallone PM, Ratzinger G, Schmuth M, Jansen-Dürr P, Liehr T, Lichter P, Parsons TJ, Pollak S, and Parson W
- Subjects
- Cell Nucleus genetics, DNA Copy Number Variations, Female, Humans, Male, Pedigree, Sequence Analysis, DNA, DNA, Mitochondrial, Genome, Human
- Abstract
The maternal mode of mitochondrial DNA (mtDNA) inheritance is central to human genetics. Recently, evidence for bi-parental inheritance of mtDNA was claimed for individuals of three pedigrees that suffered mitochondrial disorders. We sequenced mtDNA using both direct Sanger and Massively Parallel Sequencing in several tissues of eleven maternally related and other affiliated healthy individuals of a family pedigree and observed mixed mitotypes in eight individuals. Cells without nuclear DNA, i.e. thrombocytes and hair shafts, only showed the mitotype of haplogroup (hg) V. Skin biopsies were prepared to generate ρ° cells void of mtDNA, sequencing of which resulted in a hg U4c1 mitotype. The position of the Mega-NUMT sequence was determined by fluorescence in situ hybridization and two different quantitative PCR assays were used to determine the number of contributing mtDNA copies. Thus, evidence for the presence of repetitive, full mitogenome Mega-NUMTs matching haplogroup U4c1 in various tissues of eight maternally related individuals was provided. Multi-copy Mega-NUMTs mimic mixtures of mtDNA that cannot be experimentally avoided and thus may appear in diverse fields of mtDNA research and diagnostics. We demonstrate that hair shaft mtDNA sequencing provides a simple but reliable approach to exclude NUMTs as source of misleading results., (© The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research.)
- Published
- 2021
- Full Text
- View/download PDF
6. Management of congenital ichthyoses: European guidelines of care, part two.
- Author
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Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljč M, Dreyfus I, El Hachem M, Fischer J, Ganemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, Vahlquist A, Traupe H, and Oji V
- Subjects
- Dermatology methods, Europe, Humans, Ichthyosiform Erythroderma, Congenital complications, Ichthyosis complications, Consensus, Dermatology standards, Ichthyosiform Erythroderma, Congenital therapy, Ichthyosis therapy, Infant, Premature, Diseases therapy
- Abstract
These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert-based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering the management of complications and the particularities of some forms of congenital ichthyosis., (© 2018 British Association of Dermatologists.)
- Published
- 2019
- Full Text
- View/download PDF
7. Management of congenital ichthyoses: European guidelines of care, part one.
- Author
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Mazereeuw-Hautier J, Vahlquist A, Traupe H, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljc M, Dreyfus I, El Hachem M, Fischer J, Gånemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, O'Toole EA, Oji V, and Hernandez-Martin A
- Subjects
- Administration, Oral, Administration, Topical, Behavior Therapy methods, Dermatology methods, Europe, Genetic Counseling standards, Humans, Ichthyosiform Erythroderma, Congenital diagnosis, Ichthyosiform Erythroderma, Congenital psychology, Quality of Life, Social Support, Systematic Reviews as Topic, Behavior Therapy standards, Consensus, Dermatologic Agents therapeutic use, Dermatology standards, Ichthyosiform Erythroderma, Congenital therapy
- Abstract
These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016 and a consensus on the discussions. They summarize evidence and expert-based recommendations and are intended to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part one, covering topical therapies, systemic therapies, psychosocial management, communicating the diagnosis and genetic counselling., (© 2018 British Association of Dermatologists.)
- Published
- 2019
- Full Text
- View/download PDF
8. Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.
- Author
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Gruber R, Rainer G, Weiss A, Udvardi A, Thiele H, Eckl KM, Schupart R, Nürnberg P, Zschocke J, Schmuth M, Volc-Platzer B, and Hennies HC
- Subjects
- Consanguinity, DNA, Recombinant genetics, Female, Homozygote, Humans, Ichthyosis, Lamellar pathology, Infant, Newborn, Pedigree, Phenotype, Siblings, Cytochrome P-450 Enzyme System genetics, Ichthyosis, Lamellar genetics, Mutation genetics
- Abstract
Autosomal recessive congenital ichthyosis (ARCI) caused by mutations in CYP4F22 is very rare. CyP4F22, a protein of the cytochrome-P450 family 4, encodes an epidermal ω-hydroxylase decisive in the formation of acylceramides, which is hypothesized to be crucial for skin-barrier function. We report a girl with consanguineous parents presenting as collodion baby with contractures of the great joints and palmoplantar hyperlinearity. In the course of the disease she developed fine scaling of the skin with erythroderma, the latter disappearing until the age of 6 months. Her sister showed a generalized fine-scaling phenotype, and, interestingly, was born without a collodion membrane. The analysis of all known candidate genes for ARCI in parallel with a next-generation sequencing approach using a newly designed dermatogenetics gene panel revealed a previously unknown homozygous splice-site mutation c.549+5G>C in CYP4F22 in both girls, confirming the diagnosis of ARCI. Ultrastructural analysis by transmission electron microscopy in both patients showed epidermal hyperplasia, orthohyperkeratosis with persistence of corneodesmosomes into the outer stratum corneum layers, fragmented and disorganized lamellar lipid bilayers, which could be ascribed to inhomogeneous lamellar body secretion, as well as lamellar body and lipid entombment in the corneocytes. These findings correlated with increased transepidermal water loss on the functional level. For the first time, we report a collodion baby phenotype and epidermal barrier impairment in CyP4F22-deficient epidermis at both the ultrastructural and functional level, and corroborate the importance of CyP4F22 for epidermal maturation and barrier function., (© 2016 British Association of Dermatologists.)
- Published
- 2017
- Full Text
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9. Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.
- Author
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Moosbrugger-Martinz V, Jalili A, Schossig AS, Jahn-Bassler K, Zschocke J, Schmuth M, Stingl G, Eckl KM, Hennies HC, and Gruber R
- Subjects
- Adult, Diagnosis, Differential, Epidermis pathology, Foot Dermatoses genetics, Foot Dermatoses pathology, Hand Dermatoses genetics, Hand Dermatoses pathology, Homozygote, Humans, Male, Microscopy, Electron, Transmission, Netherton Syndrome pathology, Skin Diseases, Genetic pathology, Cystatin A genetics, Mutation genetics, Skin Diseases, Genetic genetics
- Abstract
Autosomal recessive exfoliative ichthyosis (AREI) results from mutations in CSTA, encoding cysteine protease inhibitor A (cystatin A). We present a 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmoplantar peeling of the skin, aggravated by exposure to water and by occlusion. Candidate gene analysis revealed a previously unknown homozygous loss-of-function mutation c.172C>T (p.Arg58Ter) in CSTA, and immunostaining showed absence of epidermal cystatin A, confirming the diagnosis of AREI. Ultrastructural analysis by transmission electron microscopy showed normal degradation of corneodesmosomes, mild intercellular oedema in the spinous layer but not in the basal layer, normal-appearing desmosomes, and prominent keratin filaments within basal keratinocytes. Thickness of cornified envelopes was reduced, lamellar lipid bilayers were disturbed, lamellar body secretion occurred prematurely and processing of secreted lamellar body contents was delayed. These barrier abnormalities were reminiscent of (albeit less severe than in) Netherton syndrome, which results from a deficiency of the serine protease inhibitor LEKTI. This work describes ultrastructural findings with evidence of epidermal barrier abnormalities in AREI., (© 2014 British Association of Dermatologists.)
- Published
- 2015
- Full Text
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10. Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.
- Author
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Gruber R, Wilson NJ, Smith FJ, Grabher D, Steinwender L, Fritsch PO, and Schmuth M
- Subjects
- Aged, Female, Filaggrin Proteins, Genetic Predisposition to Disease, Genotype, Humans, Ichthyosis Vulgaris pathology, Male, Middle Aged, Nails, Malformed pathology, Pachyonychia Congenita pathology, Pedigree, Phenotype, Young Adult, Ichthyosis Vulgaris genetics, Intermediate Filament Proteins genetics, Keratin-16 genetics, Mutation, Nails, Malformed genetics, Pachyonychia Congenita genetics
- Abstract
Pachyonychia congenita (PC), a rare autosomal-dominant keratin disorder caused by mutations in keratin genes KRT6A/B, KRT16 or KRT17, is characterized by painful plantar keratoderma and hypertrophic nail dystrophy. Loss-of-function mutations in the filaggrin (FLG) gene underlie the most prevalent skin disorder of cornification, ichthyosis vulgaris (IV), which presents with generalized scaling and is also associated with atopic dermatitis. Recently, FLG mutations have been reported to increase phenotype severity of X-linked ichthyosis and alopecia areata. We report a parent-child trio in which the mother and the son have PC and the father has IV. Both the mother and the son are carriers for the KRT16 mutation p.Leu132Pro. The son, who is much more severely affected than his mother, in addition carries the heterozygous FLG mutation p.R2447X, which was inherited from the father. This observation suggests that coinheritance of mutations in KRT16 and FLG may aggravate the PC phenotype and that FLG could serve as a genetic modifier in PC.
- Published
- 2009
- Full Text
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11. Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis.
- Author
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Giehl KA, Rogers MA, Radivojkov M, Tosti A, de Berker DA, Weinlich G, Schmuth M, Ruzicka T, and Eckstein GN
- Subjects
- Chromosome Mapping methods, DNA Mutational Analysis methods, Female, Hair Follicle metabolism, Humans, Lod Score, Male, Microsatellite Repeats, Pedigree, Reverse Transcriptase Polymerase Chain Reaction methods, Chromosomes, Human, Pair 12 genetics, Hair abnormalities, Mutation
- Abstract
Background: Pili annulati is an autosomal dominant hair shaft disorder characterized by alternating light and dark bands in hairs of affected individuals. Recently, a locus for pili annulati was mapped to chromosome 12q24.32-24.33 and recombination events defined a critical region of 9.2 cM (3.9 Mb)., Objectives: The aim of the current study was to narrow the size of the candidate region and to identify the pathogenic mutation for pili annulati by analysing the candidate genes., Methods: In three families with 90 individuals, including 40 affected subjects, linkage analysis was performed with 13 microsatellite markers in the candidate region on chromosome 12. Candidate genes were analysed for their expression in hair follicles and other tissues by reverse transcriptase-polymerase chain reaction (RT-PCR) and mutation analysis., Results: Multipoint LOD score analysis for all three families confirmed the locus on the long arm of chromosome 12 with a maximum LOD score of 12.26 at marker D12S357. In two families, recombinations were identified which narrowed the region to 2.9 Mb containing 36 genes. We analysed the candidate genes in this region by RT-PCR and found that 24 were expressed in human hair follicles. Based on the result of the expression analysis, DNA sequencing of the coding region of the candidate genes was performed; this did not result in the discovery of a causal mutation., Conclusion: We reduced the critical interval of pili annulati to 2.9 Mb and excluded mutations in the coding region of all 36 possible candidate genes by sequence analysis.
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- 2009
- Full Text
- View/download PDF
12. Prognosis of lymphomatoid papulosis.
- Author
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Gruber R, Sepp NT, Fritsch PO, and Schmuth M
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- Adolescent, Adult, Aged, Child, Female, Humans, Incidence, Lymphomatoid Papulosis classification, Lymphomatoid Papulosis therapy, Male, Middle Aged, Prognosis, Remission Induction, Lymphomatoid Papulosis diagnosis, Neoplasm Recurrence, Local diagnosis
- Published
- 2006
- Full Text
- View/download PDF
13. Painful muscular atrophy of the leg.
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Schmuth M, Kowald E, Obermoser G, Daniaux M, Fritsch P, and Sepp N
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- Adult, Female, Hemangioma radiotherapy, Humans, Thigh, Time Factors, Arteritis pathology, Leg, Muscle, Skeletal pathology, Muscular Atrophy pathology
- Published
- 2003
- Full Text
- View/download PDF
14. Topical corticosteroid therapy for acute radiation dermatitis: a prospective, randomized, double-blind study.
- Author
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Schmuth M, Wimmer MA, Hofer S, Sztankay A, Weinlich G, Linder DM, Elias PM, Fritsch PO, and Fritsch E
- Subjects
- Acute Disease, Administration, Topical, Adult, Aged, Aged, 80 and over, Breast Neoplasms radiotherapy, Cohort Studies, Double-Blind Method, Female, Glucocorticoids, Humans, Middle Aged, Ointments, Pantothenic Acid analogs & derivatives, Prospective Studies, Radiodermatitis etiology, Anti-Inflammatory Agents administration & dosage, Methylprednisolone administration & dosage, Methylprednisolone analogs & derivatives, Pantothenic Acid administration & dosage, Radiodermatitis drug therapy
- Abstract
Background: Radiation dermatitis is a common side-effect of radiation therapy, but there is no current consensus about its appropriate therapy., Objectives: To compare treatment with topical 0.1% methylprednisolone vs. 0.5% dexpanthenol in a cohort of patients undergoing fractionated radiation therapy for breast cancer., Methods: In a randomized, double-blind design, treatment was initiated at the beginning of radiation therapy and continued for 2 weeks after termination of radiation. Outcomes were compared by three different measures: clinical (symptom score), functional (transepidermal water loss, TEWL) and subjective (quality of life, QOL)., Results: In a preliminary cohort of untreated patients undergoing radiation therapy, clinical signs and TEWL levels increased progressively during radiation therapy, reaching highest values at 5 and 4 weeks, respectively. Although neither topical treatment reduced the incidence of radiation dermatitis, both delayed the emergence of greatest clinical and TEWL scores until approximately 6 and 5 weeks, respectively. With topical corticosteroids, clinical symptoms and TEWL were less pronounced than with dexpanthenol. Whereas general QOL improved after completion of radiation therapy, skin-related QOL declined. However, the skin-related QOL decline could be at least in part reversed by use of topical corticosteroid vs. dexpanthenol-containing emollient., Conclusions: We provide evidence that prophylactic and ongoing use of topical therapy with either topical corticosteroid or a dexpanthenol-containing emollient ameliorates, but does not prevent radiation dermatitis. Our data suggest, but do not prove, a benefit of a topical corticosteroid vs. a dexpanthenol-containing emollient. Further controlled studies with larger cohorts will be needed to determine optimal forms of topical therapy for radiation dermatitis.
- Published
- 2002
- Full Text
- View/download PDF
15. Reduced number of CD1a+ cells in cutaneous B-cell lymphoma.
- Author
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Schmuth M, Sidoroff A, Danner B, Topar G, and Sepp NT
- Subjects
- Adult, Aged, Aged, 80 and over, Antigen-Presenting Cells metabolism, Antigen-Presenting Cells pathology, Cell Count, Female, Humans, Lymphoma, B-Cell pathology, Lymphoma, T-Cell metabolism, Lymphoma, T-Cell pathology, Male, Middle Aged, Pseudolymphoma metabolism, Pseudolymphoma pathology, Antigens, CD1 metabolism, Lymphoma, B-Cell metabolism, Skin Neoplasms metabolism, Skin Neoplasms pathology
- Abstract
Cutaneous B-cell lymphoma is difficult to distinguish from pseudolymphoma. The histologic pattern and monoclonal restriction (immunohistochemical analysis and molecular biology) are the criteria used for differentiating these entities. CD1a+ dendritic cells have been observed in the infiltrates of T-cell lymphoma, but the presence of these CD1a+ cells has not been compared in B-cell lymphoma and pseudolymphoma. We studied the presence of CD1a+ cells on frozen sections of 23 B-cell lymphomas, 13 pseudolymphomas, and 17 T-cell lymphomas by immunohistochemical analysis. We found abundant CD1a+ dendritic cells in only 1 (4%) of 23 B-cell lymphomas, whereas in 8 (62%) of 13 pseudolymphomas and 17 (100%) of 17 T-cell lymphomas, strong CD1a staining was present. Our study demonstrates a distinct pattern of CD1a staining in the infiltrates of B-cell lymphoma and pseudolymphoma that may be of value in the differential diagnosis of these skin disorders.
- Published
- 2001
- Full Text
- View/download PDF
16. Microscopic polyangiitis in a patient with relapsing polychondritis.
- Author
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Weber F, Kowald E, Schmuth M, and Sepp N
- Subjects
- Adult, Humans, Male, Vasculitis pathology, Polychondritis, Relapsing complications, Vasculitis etiology
- Published
- 2001
- Full Text
- View/download PDF
17. Lymphocytic infiltration of the skin is a photosensitive variant of lupus erythematosus: evidence by phototesting.
- Author
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Weber F, Schmuth M, Fritsch P, and Sepp N
- Subjects
- Adult, Cell Movement, Dermatologic Agents therapeutic use, Facial Dermatoses drug therapy, Facial Dermatoses pathology, Female, Follow-Up Studies, Humans, Hydroxychloroquine therapeutic use, Lupus Erythematosus, Discoid drug therapy, Lupus Erythematosus, Discoid pathology, Male, Photosensitivity Disorders drug therapy, Photosensitivity Disorders pathology, Prospective Studies, Treatment Outcome, Ultraviolet Rays, Facial Dermatoses diagnosis, Lupus Erythematosus, Discoid diagnosis, Lymphocytes physiology, Photosensitivity Disorders diagnosis
- Abstract
Background: Lymphocytic infiltration of the skin (LIS) is a disorder in which photosensitivity has been suspected but never proven., Objectives: To carry out a systematic photobiological investigation in patients with LIS and to compare the photobiological features of LIS with those of other photosensitive disorders., Methods: We performed provocative phototesting with ultraviolet (UV) A and UVB in 10 patients with active LIS., Results: In all patients, UVA and/or UVB elicited abnormal papular phototest reactions resembling lesions of LIS both clinically and histologically. Lesions typically developed 3--6 days (mean +/- SD 100.8 +/- 20.9 h) after the first UV exposure., Conclusions: This characteristic latency interval together with certain clinical features, i.e. onset in summer, predilection for the face and persistence of the lesions, indicate that LIS is a photosensitive disorder distinct from polymorphic light eruption but indistinct from lupus erythematosus (LE). Both our photobiological findings and the effective treatment with hydroxychloroquine in half of our patients strengthen the proposal that the two entities LIS and LE tumidus are identical. As diagnosis cannot be made by histological, immunofluorescence or laboratory criteria, provocative phototesting may be a diagnostic aid in this disorder.
- Published
- 2001
- Full Text
- View/download PDF
18. Cyclophosphamide therapy is effective for bronchiolitis obliterans occurring as a late manifestation of lupus erythematosus.
- Author
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Weber F, Prior C, Kowald E, Schmuth M, and Sepp N
- Subjects
- Adult, Female, Humans, Middle Aged, Autoimmune Diseases drug therapy, Bronchiolitis Obliterans drug therapy, Cyclophosphamide therapeutic use, Immunosuppressive Agents therapeutic use, Lupus Erythematosus, Systemic complications
- Published
- 2000
- Full Text
- View/download PDF
19. Cutaneous lesions as the presenting sign of acute graft-versus-host disease following liver transplantation.
- Author
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Schmuth M, Vogel W, Weinlich G, Margreiter R, Fritsch P, and Sepp N
- Subjects
- Acute Disease, Aged, Fatal Outcome, Graft vs Host Disease etiology, Humans, Male, Skin Diseases etiology, Graft vs Host Disease diagnosis, Liver Transplantation adverse effects, Skin Diseases diagnosis
- Abstract
Acute graft-versus-host disease (GVHD) is a frequent complication of bone marrow transplantation but is only rarely observed after solid organ transplantation. We describe a 68-year-old man who developed a maculopapular eruption 7 days following orthotopic liver transplantation for cirrhosis with malignant transformation due to haemochromatosis. At day 20, the patient complained of nausea, vomiting, diarrhoea and fever. Skin biopsy revealed a lymphocytic infiltrate at the dermoepidermal interface, vacuolization of basal cells and epidermal dyskeratosis. Immunohistochemistry showed HLA-DR and intercellular adhesion molecule-1 expression of lesional keratinocytes. HLA-typing of peripheral blood lymphocytes demonstrated circulating lymphocytes of donor origin. Endoscopy revealed extensive erosions of the oesophagus, stomach and duodenum that on histology disclosed multifocal loss of crypts, lymphocytic infiltrates and epithelial cell death. A diagnosis of acute GVHD was made, and high-dose immunosuppressive therapy with azathioprine and methylprednisolone was instituted. The skin and gastrointestinal symptoms subsided within 4 weeks, but the patient died from severe infectious complications 105 days after transplantation. We conclude that acute GVHD is a rare but potentially fatal complication of liver transplantation. Skin lesions are an early sign of acute GVHD and thus represent an important tool for early diagnosis.
- Published
- 1999
- Full Text
- View/download PDF
20. Systemic sarcoidosis and cutaneous lymphoma: is the association fortuitous?
- Author
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Schmuth M, Prior C, Illersperger B, Topar G, Fritsch P, and Sepp N
- Subjects
- Anti-Inflammatory Agents therapeutic use, Combined Modality Therapy, Female, Humans, Interferon-alpha therapeutic use, Isotretinoin therapeutic use, Keratolytic Agents therapeutic use, Methylprednisolone therapeutic use, Middle Aged, Mycosis Fungoides therapy, Phototherapy, Sarcoidosis therapy, Skin Neoplasms therapy, Syndrome, Mycosis Fungoides complications, Sarcoidosis complications, Skin Neoplasms complications
- Abstract
The association of systemic sarcoidosis and malignant lymphoma is known as the 'sarcoidosis-lymphoma syndrome'. Cutaneous involvement is rare in this syndrome. We report a 52-year-old woman who was diagnosed as having tumour-stage mycosis fungoides. Complete remission was achieved by combination therapy consisting of isotretinoin, interferon (IFN) alpha, electron beam irradiation, photochemotherapy and topical corticosteroids. Three years later, the patient developed systemic sarcoidosis characterized by yellowish papules on the abdominal wall and the eyelids that histologically revealed non-caseating granulomas, multiple fine-nodular interstitial pulmonary infiltrates on chest X-ray, hilar lymphadenopathy, decreased vital capacity and increased lymphocyte count in bronchoalveloar lavage fluid. As opposed to most of the reported cases, in our patient the manifestation of cutaneous lymphoma preceded the diagnosis of systemic sarcoidosis. We review the cases reported in the literature and discuss a possible causal and temporal relationship as well as the role of IFN alpha in the development of sarcoidosis.
- Published
- 1999
- Full Text
- View/download PDF
21. The mononuclear phagocyte-dendritic cell dichotomy: myths, facts, and a revised concept.
- Author
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Goerdt S, Kodelja V, Schmuth M, Orfanos CE, and Sorg C
- Subjects
- Animals, Cell Differentiation immunology, Humans, Dendritic Cells cytology, Dendritic Cells immunology, Dendritic Cells physiology, Phagocytes cytology, Phagocytes immunology, Phagocytes physiology
- Abstract
Since Aschoff's reticuloendothelial system was abandoned a few decades ago, classification and characterization of the mononuclear phagocyte and dendritic cell systems have evolved separately or even in competition with one another. New information has now become available indicating that monocytes/macrophages and dendritic cells have a common origin in the bone marrow, and may even transdifferentiate. Morphological and functional distinctions-although valid under certain conditions-have been blurred by revelation of the versatility of monocytes/macrophages and dendritic cells in response to different contextual needs in inflammation and immunity. Monocytes/macrophages and dendritic cells share a sentinel, receptor/effector, and presentation mode, and may either activate or silence specific immune reactions. In keeping with the view of monocytes/macrophages and dendritic cells as interactive sentinels, we suggest that the mono-nuclear phagocyte and dendritic cell systems be replaced by the custocyte system (custos, Lat = sentinel, guard) as a unifying concept. Within the custocyte system, we recognize type I, type II, and type III custocytes. Type I and II custocytes exhibit predominance of presentation or effector/presenter interdependency, respectively, while type III custocytes are bipolar, passing through type I- and type II-like phases during their development and in inflammatory responses. The custocyte system brings into view monocytes/macrophages and dendritic cells as dynamic players in immunity and inflammation with a high degree of derivational, phenotypic, functional, and molecular plasticity.
- Published
- 1996
- Full Text
- View/download PDF
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