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Publication Name World Journal of Clinical Cases
Manuscript ID 100610
Country China
Category Genetics & Heredity
Manuscript Type Case Report
Article Title Birt-Hogg-Dubé syndrome - a rare genetic disorder complicated by pneumothorax: A case report
Manuscript Source Unsolicited Manuscript
All Author List Meng-Zhen Li and Jun Deng
Funding Agency and Grant Number
Corresponding Author Jun Deng, PhD, 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
Key Words 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.
Citation Li MZ, Deng J. Birt-Hogg-Dubé syndrome - a rare genetic disorder complicated by pneumothorax: A case report. World J Clin Cases 2025; In press
Received
2024-08-21 05:32
Peer-Review Started
2024-08-21 05:32
To Make the First Decision
Return for Revision
2024-09-30 10:48
Revised
2024-10-10 15:08
Second Decision
2025-01-24 02:36
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2025-01-24 08:32
Articles in Press
2025-01-24 08:32
Publication Fee Transferred
2024-11-04 08:02
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 2307-8960 (online)
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/
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