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.
| Bidragets oversatte titel | Birt-Hogg-Dubé syndrome is a rare but important cause of pneumothorax |
|---|---|
| Originalsprog | Dansk |
| Artikelnummer | V07170558 |
| Tidsskrift | Ugeskrift for Laeger |
| Vol/bind | 180 |
| Udgave nummer | 5 |
| Antal sider | 2 |
| ISSN | 0041-5782 |
| Status | Udgivet - 2018 |
Emneord
- Adult
- Birt-Hogg-Dube Syndrome/complications
- Cysts/diagnostic imaging
- Female
- Humans
- Lung Diseases/diagnostic imaging
- Medical History Taking
- Pneumothorax/genetics
- Rare Diseases
- Tomography, X-Ray Computed