Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dube syndrome
Resource
J. Postgrad. Med., 59(4), 321-323
Journal
J. Postgrad. Med.
Journal Volume
59
Journal Issue
4
Pages
321-323
Date Issued
2013
Date
2013
Author(s)
Yang, C. Y.
Wang, H. C.
Chen, J. S.
Yu, C. J.
Abstract
Primary spontaneous pneumothorax usually occurs as a sporadic event, but may be clustered in certain families with an underlying inherited disorder. Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant disease accounting for familial pneumothorax. BHD syndrome, caused by mutation of the folliculin gene, is characterized by skin fibrofolliculoma, pulmonary cysts, pneumothorax, and renal cancer. We describe a BHD-affected Taiwanese family with clinical and genetic study. A rare mutation of the folliculin gene was detected in the patient and members with pulmonary cysts or pneumothorax, but no skin or renal lesions were found. This mutation was reported in a Taiwanese family and might indicate a pneumothorax-predominant phenotype. Isolated pneumothorax is an uncommon initial presentation of BHD syndrome. Family history should be carefully reviewed when managing a patient with pneumothorax.
Subjects
Inherited disease
pneumothorax
rare lung disease
SDGs
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