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Article

A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.

The British journal of dermatology - 1 Feb 2018

Pavlovsky M, Sarig O, Eskin-Schwartz M, Malchin N, Bochner R, Mohamad J, Gat A, Peled A, Hafner A, Sprecher E

Abstract excerpt

BACKGROUND: Dowling-Degos disease (DDD), featuring reticulate pigmentation, and familial hidradenitis suppurativa (HS) share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. The coexistence of the two disorders was recently found to result from mutations in PSENEN, encoding the γ-secretase subunit protein presenilin enhancer. OBJECTIVES: To investigate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Notch

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PMID: 28922471
DOI: 10.1111/bjd.16000

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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