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A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata

Generalized inflammatory peeling skin syndrome (PSS) is a rare autosomal recessive genodermatosis caused by loss‐of‐function disease‐causing variants of the corneodesmosin gene (CDSN), resulting in excessive shedding of the superficial layers of the epidermis. We describe a case of generalized infla...

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Detalles Bibliográficos
Autores principales: Gordon, Helen, Yap, Patrick, Hsiao, Kuang‐Chih, Watson, Michael, Purvis, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305742/
https://www.ncbi.nlm.nih.gov/pubmed/35178752
http://dx.doi.org/10.1111/pde.14939