Birt-Hogg-Dubésyndrome-a rare genetic disorder complicated by pneumothorax:A case report  

作　　者：Meng-Zhen Li Jun Deng 

机构地区：[1]Department of Orthopedics,The First People's Hospital of Kunshan,Jiangsu University,Kunshan 215300,Jiangsu Province,China [2]Department of Emergency Surgery,The First People's Hospital of Kunshan,Jiangsu University,Kunshan 215300,Jiangsu Province,China

出　　处：《World Journal of Clinical Cases》2025年第18期11-20,共10页世界临床病例杂志(英文)

摘　　要：BACKGROUND Birt-Hogg-Dubé(BHD)syndrome is a rare genetic disorder associated with mutations in the BHD gene,which can manifest symptoms at any age,including dermatological and pulmonary complications,as well as renal tumors.This study presents a case of a BHD patient who experienced spontaneous pneumothorax,aiming to enhance the understanding of this syndrome.CASE SUMMARY A 42-year-old female patient presented with left-sided chest pain and tightness lasting three days.Chest computed tomography scans revealed left-sided pneumothorax and multiple pulmonary bullae.Physical examination indicated decreased vocal fremitus and tympanic percussion on the left side.A thorough family history revealed a pattern of pulmonary disorders,including emphysema,spontaneous pneumothorax,and lung cancer among relatives.Genetic testing identified a heterozygous frameshift mutation in the FLCN gene at the 17p11.2 locus.Based on the clinical presentation,imaging findings,family history,and genetic results,the patient was suspected to have BHD syndrome.CONCLUSION We present a case of a heterozygous mutation in the FLCN gene in a patient with BHD syndrome,aiming to review the associated clinical characteristics and genetic mechanisms of this condition.This case serves as a reference point to offer insights into the diagnosis of multiple pulmonary cysts and spontaneous pneumo-thorax of unknown etiology in clinical practice.

关 键 词：Birt-Hogg-Dubésyndrome Spontaneous pneumothorax Genetic disorder FLCN gene FOLLICULIN Case report 

分 类 号：R596.1[医药卫生—内科学]