Open AccessPSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease
Author(s) -
Dincy Peter,
Frances J.D. Smith,
Neil Wilson,
Sumita Danda
Publication year - 2021
Publication title -
indian dermatology online journal
Language(s) - English
Resource type - Journals
eISSN - 2249-5673
pISSN - 2229-5178
DOI - 10.4103/idoj.idoj_218_20
Subject(s) - hidradenitis suppurativa , genodermatosis , medicine , dermatology , scars , apocrine , disease , pathology , genetics , gene , biology
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.