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Birt-Hogg-Dubés syndrom er en sjælden, men vigtig årsag til pneumothorax

Forfattere
Laurits Frøssing1, Lars Pedersen1 & Saher Shaker2 1) Lungemedicinsk Afdeling, Bispebjerg Hospital 2) Lungemedicinsk Afdeling, Gentofte Hospital Ugeskr Læger 2018;180:V07170558
Reference: 
Ugeskr Læger 2018;180:V07170558
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Sidetal: 
2-3
Birt-Hogg-Dubé syndrome is a rare but important cause of pneumothorax
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.

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