PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations

PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations

Hidradenitis suppurativa and Dowling-Degos disease are two independent rare diseases with characteristic clinical manifestations. The PSENEN gene encodes a critical subunit of the γ-secretase complex, mutations of which can independently or concurrently lead to hidradenitis suppurativa and Dowling-D...

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Bibliographic Details
Main Authors: Qiuhe Song, Chaowen Zhang, Pengfei Xu, Jianqiao Wang, Fangfang Liao, Qipeng Xiao, Yousheng Mao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Medicine
Subjects:
hidradenitis suppurativa
case report
mutation
Dowling-Degos disease
PSENEN
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1542909/full
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