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Article

Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.

BMC pulmonary medicine - 21 Feb 2017

Hao Shengyu, Long Fei, Sun Fenglan, Liu Teng, Li Daowei, Jiang Shujuan

Abstract excerpt

BACKGROUND: The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carcinoma, and recurrent pneumothoraxes. The disease is easily ignored or misdiagnosed as pneumothorax, pulmonary...

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Identifiers

PMID: 28222720
DOI: 10.1186/s12890-017-0383-9
PMCID: PMC5320703

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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