[Clinical and genetic features of Chinese patients with Birt-Hogg-Dubé syndrome].

PubMed 2026

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Authors: X M Chen, Xiaohong Xie, X X Zhang, R Wang, M Y Zhang, R M Zhang, J L Liu, X X Zhang, W J Zhou, C S Cheng, Y P Liu, H Chen
+4 more K F Xu, J Liu, X W Hu, X L Tian
DOI: 10.3760/cma.j.cn112147-20250714-00406
Cited by: 0

Abstract

Chinese patients with BHD predominantly present with pulmonary cysts and pneumothorax, with a relatively low incidence of renal tumors. Although the detection rate of skin lesions is higher than previously reported, significant regional variations persist. Multidisciplinary collaboration is recommended in medical centers to improve diagnostic accuracy. Furthermore, Chinese patients exhibit a distinct genetic variant profile, with five variants potentially associated with pneumothorax and skin lesion phenotypes; however, further studies are required to validate these findings.

Publication details

Journal / source
PubMed
Volume
49
Issue
1
Pages
29–37
Publication date
12 January 2026
Language
ZH