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CASE REPORT
Year : 2021  |  Volume : 12  |  Issue : 1  |  Page : 147-149

PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease


1 Department of Dermatology, Venereology and Leprosy, Christian Medical College, Vellore, Tamil Nadu, India
2 Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK
3 Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India

Correspondence Address:
Dincy C. V Peter
Department of Dermatology, Venereology and Leprosy, Christian Medical College, Vellore - 632 004, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/idoj.IDOJ_218_20

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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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