2009 Volume 23 Issue 6 Pages 807-811
A 58-year-old woman, incidentally shown to have a right-sided spontaneous pneumothorax on chest radiograph at a medical check-up, visited our hospital. She had a previous history of surgery for left-sided spontaneous pneumothorax, and her sister and two brothers had experienced spontaneous pneumothorax. Chest CT scan showed multiple cystic changes of the bilateral lungs. She had some acrochordons and some suspected lesions of fibrofolliculomas on the face. We associated the above findings with Birt-Hogg-Dube (BHD) syndrome. We performed an operation to treat her pneumothorax, detected a 2-cm bulla on the bottom of the lung which was suspected to be the cause of this pneumothorax, and resected the bulla employing video-assisted thoracic surgery. After the operation, we finally diagnosed her illness as BHD syndrome with DNA sequence analysis of her BHD gene. BHD syndrome is an autosomal dominant dermatosis, and it sometimes accompanies multiple lung cysts, spontaneous pneumothorax, and renal tumors. When a patient shows multiple lung cysts and has a family history of pneumothorax, BHD syndrome should be borne in mind.
