Abstract
An 18-year-old male patient was referred to the department of pediatric pulmonology with a history of recurrent pneumothorax. Initial pneumothorax occurred at the age of 10. Following diagnosis of congenital lobar emphysema, he had five episodes of pneumothorax and subsequently underwent right-lower lobe anterobasal segmentectomy. Based on thoracic computed tomography (CT) and clinical manifestation, Birt-Hogg-Dube (BHD) syndrome was suspected and confirmed following genetic testing. BHD syndrome is a rare tumor predisposition syndrome first described in 1977. The syndrome is characterized by skin fibrofolliculomas, lung cysts, recurrent spontaneous pneumothorax, and renal cell cancer. The underlying cause is a germline mutation in the folliculin (FLCN) gene located on chromosome 17p11.2. Clinical manifestation usually appears after the age of 20 years. In this case, we report a case of BHD with episodes of recurrent pneumothorax, the first of which occurred at the age of 10 years. Pulmonologists should be aware of this syndrome in patients with a personal and family history of pneumothoraces and CT findings of multiple pulmonary cysts as additional evaluation and testing may be warranted. Pediatr Pulmonol. 2016;51:E41-E43. © 2016 Wiley Periodicals, Inc.
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