PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease
oleh: Dincy C. V Peter, Frances J. D Smith, Neil J Wilson, Sumita Danda
| Format: | Article |
|---|---|
| Diterbitkan: | Wolters Kluwer Medknow Publications 2021-01-01 |
Deskripsi
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.