A rare occurrence of a hereditary Birt-Hogg-Dubésyndrome:A case report  

作　　者：You-Ran Lu Qing Yuan Jian Liu Xue Han Min Liu Qing-Quan Liu Yu-Guang Wang 

机构地区：[1]Department of Respiration,Beijing Traditional Chinese Medicine Hospital Affiliated to Capital Medical University,Beijing 100010,China [2]Department of Imaging,Traditional Chinese Medicine Hospital Affiliated to Capital Medical University,Beijing 100010,China [3]Department of Pathology,Traditional Chinese Medicine Hospital Affiliated to Capital Medical University,Beijing 100010,China

出　　处：《World Journal of Clinical Cases》2021年第24期7123-7132,共10页世界临床病例杂志

摘　　要：BACKGROUND 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.CASE SUMMARY A 26-year-old woman with no history of smoking was admitted to the Respiratory Department of our hospital due to intermittent wheezing that lasted for 8 mo.She had experienced recurrent spontaneous pneumothorax more than four times during the past 8 mo.After admission,the patient again suffered from left pneumothorax without a clear reason.Lung computed tomography(CT)showed multiple low-density cystic changes in both lungs.Physical examination on admission revealed multiple white dome-shaped papules in the neck,the nape,and behind the ear.In addition,the patient had a family history of spontaneous pneumothorax.Her mother had suffered from pneumothorax four times(at age 36,37,42,and 50 years).Her second maternal aunt had suffered from a right pneumothorax at the age of 40.The multidisciplinary diagnosis of BHD,which included the Respiratory Department,Radiology Department,Pathology Department,and Dermatological Department,was BHD and was later confirmed by family genetic testing.The same variation(FLCN gene)was found in the patient’s mother and aunt.CONCLUSION This case highlights the importance of multidisciplinary diagnosis and a treatment platform for the diagnosis of BHD.

关 键 词：Birt-Hogg-Dubésyndrome Spontaneous pneumothorax Cystic lesions in the lungs Multidisciplinary diagnosis and treatment Germline mutations in the folliculin Case report 

分 类 号：R596.1[医药卫生—内科学]