A case of recurrent pneumothorax with Birt-Hogg-Dube (BHD) syndrome diagnosed by genetic analysis

Abstract

A 39-year-old woman was admitted to our hospital due to spontaneous pneumothorax. She suffered from left chest pain and dyspnea. She had no skin eruptions or renal tumors. She had no family history of pneumothorax or renal tumor. Video-assisted thoracic surgery was performed. Eight bullae were resected surgically by pulmonary wedge resection. BHD syndrome was suggested clinically, because of thin-walled lung cysts at an atypical site. On genetic analysis, the BHD gene mutation was identified.