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
Core Tip

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.