What question did this study set out to answer?

The aim is to explore the genetic basis of familial Dowling-Degos Disease (DDD) and Hidradenitis Suppurativa (HS).

January 16, 2026Clinical and Experimental Dermatology0 citations

Familial Dowling-Degos Disease with Hidradenitis Suppurativa associated with loss-of-function NCSTN mutation

AMAkshay MeenaJawaharlal Institute of Post Graduate Medical Education and Research SSSaka Sowmya SusanJawaharlal Institute of Post Graduate Medical Education and Research RGRagul GaneshJawaharlal Institute of Post Graduate Medical Education and Research

Key Points

The aim is to explore the genetic basis of familial Dowling-Degos Disease (DDD) and Hidradenitis Suppurativa (HS).
Documented a clinical case of a middle-aged woman with DDD and HS.
Examined her son for related symptoms.
Identified a heterozygous nonsense variant in NCSTN.
Both the mother and son exhibited features of DDD and HS.
A novel mutation was detected in NCSTN.
The son presented a milder phenotype of the conditions.

Abstract

We report a middle-aged woman presenting with features of both DDD and HS, along with a milder phenotype in her son, caused by a novel heterozygous nonsense variant in NCSTN.

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