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411 results on '"Schmuth M"'

3. 655 Origin and functions of the corneocyte lipid envelope

Author

Crumrine, D, Khnykin, D, Krieg, P, Man, M, Celli, A, Mauro, T, Menon, G, Mauldin, E, Miner, J, Brash, A, Sprecher, E, Radner, F, Choate, K, Roop, DR, Uchida, Y, Gruber, R, Schmuth, M, and Elias, P

Subjects
Clinical Sciences, Oncology and Carcinogenesis, Dermatology & Venereal Diseases
Published
2018

5. 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus

Author

Aevermann, B.D., primary, Di Domizio, J., additional, Olah, P., additional, Armstrong, J.M., additional, Bachelez, H., additional, Barker, J., additional, Haniffa, M., additional, Julia, V., additional, Juul, K., additional, Krishnaswamy, J., additional, Litman, T., additional, Parsons, I., additional, Sarin, K., additional, Schmuth, M., additional, Sierra, M., additional, Simpson, M., additional, Homey, B., additional, Griffiths, C., additional, Scheuermann, R.H., additional, and Gilliet, M., additional

Published
2023
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7. A retrospective study on the liver toxicity of oral retinoids in Chanarin–Dorfman syndrome.

Author

Valette, C., Jonca, N., Fischer, J., Pernin‐Grandjean, J., Granier Tournier, C., Diociaiuti, A., Neri, I., Dreyfus, I., Furman, M., Giehl, K., Wollenberg, A., Mallet, S., Martin, L., Martin‐Santiago, A., Onnis, G., Broue, P., Leclerc‐Mercier, S., Schmuth, M., Sprecher, E., and Gruber, R.

Subjects
HEPATOTOXICOLOGY, ICHTHYOSIS, RETINOIDS, LIPIDOSES, HEPATIC fibrosis
Abstract

Patient (F5-1) had a cirrhosis at the age of 34 years (after 12 years of OR), but liver blood parameters remained stable during the 31 years of follow-up. Before introducing OR, all also had liver anomalies, that consisted in either increased liver enzymes, hyper echogenic liver, hepatosplenomaly or cirrhosis for one patient (F6-1). In conclusion, awaiting future targeted therapy for DCS or prospective monitoring studies, there is no safety signal to contraindicate OR in CDS patients with disabling skin anomalies, on condition that a close monitoring is performed. [Extracted from the article]

Published
2023
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20. Biologic drug survival rates in the era of anti‐interleukin‐17 antibodies: a time‐period‐adjusted registry analysis*

Author

Graier, T., primary, Salmhofer, W., additional, Jonak, C., additional, Weger, W., additional, Kölli, C., additional, Gruber, B., additional, Sator, P.G., additional, Prillinger, K., additional, Mlynek, A., additional, Schütz‐Bergmayr, M., additional, Richter, L., additional, Ratzinger, G., additional, Painsi, C., additional, Selhofer, S., additional, Häring, N., additional, Wippel‐Slupetzky, K., additional, Skvara, H., additional, Trattner, H., additional, Tanew, A., additional, Inzinger, M., additional, Tatarski, R., additional, Bangert, C., additional, Ellersdorfer, C., additional, Lichem, R., additional, Gruber‐Wackernagel, A., additional, Hofer, A., additional, Legat, F., additional, Schmiedberger, E., additional, Strohal, R., additional, Lange‐Asschenfeldt, B., additional, Schmuth, M., additional, Vujic, I., additional, Hoetzenecker, W., additional, Trautinger, F., additional, Saxinger, W., additional, Müllegger, R., additional, Quehenberger, F., additional, and Wolf, P., additional

Published
2021
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24. Ichthyoses

Author

Elias, P.M., primary, Williams, M.L., additional, Crumrine, D., additional, and Schmuth, M., additional

Published
2010
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31. Syndrome de Dorfman-Chanarin : caractéristiques phénotypiques et génotypiques d’une série de 21 patients

Author

Valette, C., primary, Hill, S., additional, Benzebouchi, N.-E., additional, Diociaiuti, A., additional, Dreyfus, I., additional, Giehl, K., additional, Mallet, S., additional, Martin, L., additional, Martin-Santiago, A., additional, Oji, V., additional, Onnis, G., additional, O’Toole, E., additional, Schmuth, M., additional, Suessmuth, K., additional, Wollenberg, A., additional, Pernin-Grandjean, J., additional, Jonca, N., additional, and Mazereeuw, J., additional

Published
2019
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35. Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

Author

Lima Cunha, D., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K., and Hennies, H.C.

Subjects
Technology Platforms
Abstract

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic causes and clinical picture has not been described to date. METHODS: Our study included 19 families from Saudi Arabia, Yemen, and Pakistan. All patients were born to consanguineous parents and diagnosed with ARCI. Mutations were analyzed by homozygosity mapping and direct sequencing. RESULTS: We have detected mutations in all families in five different genes: TGM1, ABCA12, CYP4F22, NIPAL4, and ALOXE3. Five likely pathogenic variants were unknown so far, a splice site and a missense variant in TGM1, a splice site variant in NIPAL4, and missense variants in ABCA12 and CYP4F22. We attributed TGM1 and ABCA12 mutations to the most severe forms of lamellar and erythematous ichthyoses, respectively, regardless of treatment. Other mutations highlighted the presence of a phenotypic spectrum in ARCI. CONCLUSION: Our results contribute to expanding the mutational spectrum of ARCI and revealed new insights into genotype/phenotype correlations. The findings are instrumental for a faster and more precise diagnosis, a better understanding of the pathophysiology, and the definition of targets for more specific therapies for ARCI.

Published
2019

44. Management of congenital ichthyoses : European guidelines of care, part two

Author

Mazereeuw-Hautier, J., Hernandez-Martin, A., O'Toole, E. A., Bygum, A., Amaro, C., Aldwin, M., Audouze, A., Bodemer, C., Bourrat, E., Diociaiuti, A., Dolenc-Voljc, 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, D. G., Pietrzak, A., Poot, F., Schmuth, M., Sitek, J. C., Steijlen, P., Wehr, G., Moreen, M., Vahlquist, Anders, Traupe, H., Oji, V, Mazereeuw-Hautier, J., Hernandez-Martin, A., O'Toole, E. A., Bygum, A., Amaro, C., Aldwin, M., Audouze, A., Bodemer, C., Bourrat, E., Diociaiuti, A., Dolenc-Voljc, 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, D. G., Pietrzak, A., Poot, F., Schmuth, M., Sitek, J. C., Steijlen, P., Wehr, G., Moreen, M., Vahlquist, Anders, Traupe, H., and Oji, V

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. What's already known about this topic? Various symptomatic treatment options exist for congenital ichthyoses, but there are no European guidelines. What does this study add? These European guidelines for the management of congenital ichthyosis may help to improve outcomes and quality of life for patients. Linked Comment: Akiyama. Br J Dermatol 2019; 180:449-450. Plain language summary available online

Published
2019
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45. Management of congenital ichthyoses : European guidelines of care, part one

Author

Mazereeuw-Hautier, J., Vahlquist, Anders, 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., Ganemo, A., Gouveia, C., Gruber, R., Hadj-Rabia, S., Hohl, D., Jonca, N., Ezzedine, K., Maier, D., Malhotra, R., Rodriguez, M., Ott, H., Paige, D. G., Pietrzak, A., Poot, F., Schmuth, M., Sitek, J. C., Steijlen, P., Wehr, G., Moreen, M., O'Toole, E. A., Oji, V, Hernandez-Martin, A., Mazereeuw-Hautier, J., Vahlquist, Anders, 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., Ganemo, A., Gouveia, C., Gruber, R., Hadj-Rabia, S., Hohl, D., Jonca, N., Ezzedine, K., Maier, D., Malhotra, R., Rodriguez, M., Ott, H., Paige, D. G., Pietrzak, A., Poot, F., Schmuth, M., Sitek, J. C., Steijlen, P., Wehr, G., Moreen, M., O'Toole, E. A., Oji, V, and Hernandez-Martin, A.

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.

Published
2019
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