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| CASE REPORT |
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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
CY Yang1, HC Wang1, JS Chen2, CJ Yu1
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
Taiwan
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0022-3859.123169
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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