A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax

The Birt–Hogg–Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax. Computed tomography images and a positive family history for pneumothoraces led to the suspicion of Birt–Hogg–Dubé syndrome. Genetic testing then confirmed the suspected clinical diagnosis, however with a mutation that has not yet been reported.