부산대학교 도서관

Birt–Hogg–Dubé syndrome (BHD) is a rare condition which was first described in 1977. The incidence of BHD syndrome is unknown. However, approximately 600 families have been identified worldwide. The inheritance is autosomal dominant and caused by different mutations in the folliculin (FLCN) gene on chromosome 17 which encodes FLCN protein. These mutations are small insertion/deletions, splice-site, and nonsense mutations, which lead in most cases to premature truncation and loss of function of the folliculin protein. The condition is clinically characterized by diffuse pulmonary cysts which lead to spontaneous pneumothorax (SP), increased risk of renal cancer, and benign skin hamartomas mostly in the head and neck. However, the disease shows a considerable clinical heterogeneity. Pulmonary manifestations of BHD are being detected in more than 80% of the patients and occur at a median age of 30–40 years. Nevertheless, pulmonary function is generally normal or show only mild airway obstruction. Patients present typically with recurrent SP. In this review, we describe a female patient who presented with recurrent (SP). BHD was suspected and later on genetically confirmed. The patient was managed with VATS pleurectomy as definitive treatment of the pneumothorax.