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A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report.

Medicine - 7 Jul 2023

Xiao Hua, Chi Feng, Li Shuai, Wang Tao, Bai Bin, Hou Jia, Ge Xiahui

Abstract excerpt

RATIONALE: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal recessive genetic disorder caused mainly by mutations in the tumor suppressor FLCN gene. Tumors caused by FLCN mutations are frequently benign and develop in skin, lungs, kidney, and other organs, leading to a variety of phenotypes that make early diagnoses of BHD challenging. PATIENT CONCERNS: A 51-year-old female was admitted to Shanghai Seventh...

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Identifiers

PMID: 37417625
DOI: 10.1097/MD.0000000000034241
PMCID: PMC10328714

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