PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease

Hidradenitis suppurativa is a chronic relapsing disease with multiple abscesses, nodules, and scars in the apocrine bearing areas. Dowling-Degos is a rare autosomal dominant genodermatosis characterized by multiple hyperpigmented macules or papules in reticulate pattern, affecting mainly the flexure...

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Detalles Bibliográficos
Autores principales: Peter, Dincy C. V., Smith, Frances J. D., Wilson, Neil J., Danda, Sumita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982026/
https://www.ncbi.nlm.nih.gov/pubmed/33768038
http://dx.doi.org/10.4103/idoj.IDOJ_218_20
Descripción
Sumario:Hidradenitis suppurativa is a chronic relapsing disease with multiple abscesses, nodules, and scars in the apocrine bearing areas. Dowling-Degos is a rare autosomal dominant genodermatosis characterized by multiple hyperpigmented macules or papules in reticulate pattern, affecting mainly the flexures. We report a case of coexisting hidradenitis suppurativa and Dowling-Degos disease in a 31-year-old male in whom PSENEN mutation analysis revealed a splice site mutation c.62-1G>T.

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