Familial Dowling–Degos disease with hidradenitis suppurativa associated with loss-of-function NCSTN mutation

Clinical and Experimental Dermatology 2026

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Authors: Akshay Meena, Saka Sowmya Susan, Rajesh Nachiappa Ganesh, Sheetanshu Kumar
DOI: 10.1093/ced/llag020
Cited by: 0
References: 12

Abstract

We report a 39-year-old woman presenting with features of both Dowling–Degos disease and hidradenitis suppurativa, along with a milder phenotype in her son, caused by a novel heterozygous nonsense variant in NCSTN.

Fields of Study & Subjects

Genetic and rare skin diseases. Hidradenitis Suppurativa and Treatments Genomics and Rare Diseases

Publication details

Journal / source
Clinical and Experimental Dermatology
Volume
51
Issue
6
Pages
1185–1187
Publication date
10 January 2026
Language
EN