A case of recurrent pneumothorax and skin lesions diagnosed with Birt-Hogg-Dubé.

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disease that is manifested as benign cutaneous tumors, multiple lung parenchymal cysts and an increased risk of renal cancer. Its symptoms usually do not appear until adulthood. We report a patient who was admitted with recurrent pneumothorax. Discovering typical cutaneous lesions accompanied with a history of the same condition in his son, BHD syndrome was diagnosed.