2016 Volume 30 Issue 4 Pages 472-475
Birt-Hogg-Dubé syndrome is an autosomal dominant inherited disorder characterized by skin lesions, renal tumors, and pneumothorax. A woman in her forties underwent an operation for pulmonary cysts and suturing and covering a relapsing pneumothorax. She had a previous history of simultaneous left renal cancer and left pneumothorax six years ago. Her mother, uncle, aunt, and cousin had a history of pneumothorax. Birt-Hogg-Dubé syndrome was suspected, and a genetic examination was performed. The examination revealed mutation of the FLCN gene and she was diagnosed with Birt-Hogg-Dubé syndrome. Because the long-term prognosis associated with Birt-Hogg-Dubé syndrome has not been fully clarified, long-term follow-up is necessary.