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  • Title: [Birt-Hogg-Dubé syndrome is a rare but important cause of pneumothorax].
    Author: Frøssing L, Pedersen L, Shaker S.
    Journal: Ugeskr Laeger; 2018 Jan 29; 180(5):. PubMed ID: 29393029.
    Abstract:
    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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