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.
| Translated title of the contribution | Birt-Hogg-Dubé syndrome is a rare but important cause of pneumothorax |
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| Original language | Danish |
| Article number | V07170558 |
| Journal | Ugeskrift for Laeger |
| Volume | 180 |
| Issue number | 5 |
| Number of pages | 2 |
| ISSN | 0041-5782 |
| Publication status | Published - 2018 |