Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 26, 2025; 13(18): 100610
Published online Jun 26, 2025. doi: 10.12998/wjcc.v13.i18.100610
Birt-Hogg-Dubé syndrome - a rare genetic disorder complicated by pneumothorax: A case report
Meng-Zhen Li, Jun Deng
Meng-Zhen Li, Department of Orthopedics, The First People's Hospital of Kunshan, Jiangsu University, Kunshan 215300, Jiangsu Province, China
Jun Deng, Department of Emergency Surgery, The First People's Hospital of Kunshan, Jiangsu University, Kunshan 215300, Jiangsu Province, China
Author contributions: Li MZ was responsible for writing the main manuscript text and overseeing the production of Figures 3 and 7; Figures 1, 2 and 4-6 of this article were provided by Deng J, who also served as the chief surgeon for the patient; the manuscript was thoroughly reviewed by all authors.
Informed consent statement: Informed consent from the patients was provided.
Conflict-of-interest statement: Both authors declare no conflict of interests.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jun Deng, PhD, Affiliate Associate Professor, Surgeon, Department of Emergency Surgery, The First People's Hospital of Kunshan, Jiangsu University, No. 566 Qianjin East Road, Kunshan 215300, Jiangsu Province, China. yaya850830@126.com
Received: August 21, 2024
Revised: October 10, 2024
Accepted: January 24, 2025
Published online: June 26, 2025
Processing time: 190 Days and 2.1 Hours
Abstract
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 pneumothorax of unknown etiology in clinical practice.

Keywords: Birt-Hogg-Dubé syndrome; Spontaneous pneumothorax; Genetic disorder; FLCN gene; Folliculin; Case report

Core Tip: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant genetic disorder. The non-specific nature of its symptoms often results in frequent misdiagnoses and overlooked cases. In this report, we describe a patient with BHD syndrome who presented solely with multiple pulmonary bullae and pneumothorax. This case serves as a focal point for an in-depth discussion regarding the diagnosis, clinical presentation, prognosis, and management strategies for BHD syndrome.