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Year : 2013  |  Volume : 59  |  Issue : 4  |  Page : 321-323

Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome

1 Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan
2 Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan

Correspondence Address:
H C Wang
Department of Internal Medicine, National Taiwan University Hospital, Taipei
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0022-3859.123169

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Primary spontaneous pneumothorax usually occurs as a sporadic event, but may be clustered in certain families with an underlying inherited disorder. Birt-Hogg-Dubι (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.


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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow