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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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2021-01-01T00:00:00Z.
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| Summary: | 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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| Item Description: | 2229-5178 10.4103/idoj.IDOJ_218_20 |