Birt-Hogg-Dubés syndrom er en sjaelden, men vigtig årsag til pneumothorax
Sammanfattning
Birt-Hogg-Dubé syndrome (BHD) is an autosomal-dominant genodermatosis manifesting as a multisystemic disorder. The most common presentation of pulmonary involvement is spontaneous pneumothorax, and it has recently been estimated, that up to 5-10% of patients with primary spontaneous pneumothorax have underlying BHD. The purpose of this case report is to stress the paramount importance of a thorough family history in patients with spontaneous pneumothorax and to recommend, that patients with a spontaneous pneumothorax and a personal or family history of pneumothorax should be screened for BHD.