Dowling-Degos disease, featuring reticulate pigmentation, and familial hidradenitis suppurativa share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. In Sep 18, 2017, M. Pavlovsky and others published an article in << British Journal Dermatology>> which title is “A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN”, reported 4 additional families of Jewish Ashkenazi origin who presented with clinical features characteristic of both disorders. All patients were found to carry the same, heterozygous mutation in PSENEN (c.168T>G, p.Y56X). Haplotype analysis revealed that the mutation originated from a common ancestor. Dowling-Degos disease- as well as hidradenitis suppurativa-associated genes have been shown to encode important regulators of Notch signaling. Accordingly, using a reporter assay, we demonstrated decreased Notch activity in patient's keratinocytes. The present data confirm the genetic basis of the combined Dowling-Degos disease-hidradenitis suppurativa phenotype and suggest that Notch signaling may play a central role in the pathogenesis of this rare condition. This article is protected by copyright. All rights reserved.
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