Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 26, 2021; 9(24): 7123-7132
Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7123
A rare occurrence of a hereditary Birt-Hogg-Dubé syndrome: A case report
You-Ran Lu, Qing Yuan, Jian Liu, Xue Han, Min Liu, Qing-Quan Liu, Yu-Guang Wang
You-Ran Lu, Qing Yuan, Jian Liu, Qing-Quan Liu, Yu-Guang Wang, Department of Respiration, Beijing Traditional Chinese Medicine Hospital Affiliated to Capital Medical University, Beijing 100010, China
Xue Han, Department of Imaging, Traditional Chinese Medicine Hospital Affiliated to Capital Medical University, Beijing 100010, China
Min Liu, Department of Pathology, Traditional Chinese Medicine Hospital Affiliated to Capital Medical University, Beijing 100010, China
Author contributions: Lu YR, Han X, and Liu M analysed data; Lu YR wrote the manuscript; Yuan Q, Liu J, Liu QQ, and Wang YG made the manuscript revisions; All authors reviewed the results and approved the final version of the manuscript.
Informed consent statement: The patient has consented to the submission of the case.
Conflict-of-interest statement: There are no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yu-Guang Wang, MD, Doctor, Department of Respiration, Beijing Traditional Chinese Medicine Hospital Affiliated to Capital Medical University, No. 23 Art Museum Houjie, Dongcheng District, Beijing 100010, China. wygzhyiaids@126.com
Received: December 28, 2020
Peer-review started: December 28, 2020
First decision: May 6, 2021
Revised: May 18, 2021
Accepted: June 4, 2021
Article in press: June 4, 2021
Published online: August 26, 2021
Processing time: 238 Days and 16.8 Hours
Abstract
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.

Keywords: Birt-Hogg-Dubé syndrome; Spontaneous pneumothorax; Cystic lesions in the lungs; Multidisciplinary diagnosis and treatment; Germline mutations in the folliculin; Case report

Core Tip: Birt-Hogg-Dubé (BHD) syndrome involves multiple organs and systems of the human body, with complex and diverse clinical manifestations. In addition, physicians lack sufficient knowledge and experience in the diagnosis and treatment of this rare disease. This case highlights the importance of establishing a multidisciplinary diagnosis and treatment platform for the clinical diagnosis and treatment process, which is of great significance for the accurate identification of BHD.