Abstract
Birt-Hogg-Dube (BHD) syndrome is a rare autosomal and predominantly inherited disorder which has three characteristics: multiple lung cysts associated with pneumothorax; skin fibrofolliculomas; and renal neoplasms. We herein report a case of BHD syndrome. A 39-year-old man was admitted to our hospital due to spontaneous pneumothorax. Five family members had experienced episodes of pneumothorax. A chest CT showed multiple lung cysts, which are unusual findings of spontaneous pneumothorax. He underwent pulmonary wedge resection, ligation of blebs, and covering of the visceral pleura. He had skin eruptions on the nose, and BHD syndrome was suggested clinically. On genetic analysis, the BHD gene mutation was identified. For multiple-cystic disease of the lung with an unknown etiology or atypical spontaneous pneumothorax, it is necessary to consider the possibility of BHD syndrome.
