Open AccessA rare occurrence of a hereditary Birt-Hogg-Dubé syndrome: A case report
Author(s) -
Youran Lu,
Qing Yuan,
Jian Liu,
Xue Han,
Min Liu,
Qingquan Liu,
Yuguang Wang
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i24.7123
Subject(s) - medicine , birt–hogg–dubé syndrome , dermatology , surgery , pneumothorax
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disease caused by germline mutations in the folliculin (FLCN) protein gene, which usually manifests as cutaneous fibrofolliculoma, pulmonary cysts, renal cell carcinoma, and spontaneous pneumothorax.