The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: a hypothesis

Respirology. 2014 Nov;19(8):1248-50. doi: 10.1111/resp.12405.

Abstract

The development and natural course of lung cysts in patients with Birt-Hogg-Dubé syndrome (BHD) is still unclear, and the relationship between lung cysts and pneumothorax is not fully clarified. Based on the follow-up results of thoracic imaging in six patients with BHD, we hypothesize that decreased potential for stretching of the cysts' wall and extensive contact with the visceral pleura are probably responsible for rupture of the cyst wall resulting in increased risk for pneumothorax.

Keywords: Birt-Hogg-Dubé syndrome; folliculin; folliculin gene; pneumothorax; renal cell cancer.

MeSH terms

  • Adult
  • Birt-Hogg-Dube Syndrome* / complications
  • Birt-Hogg-Dube Syndrome* / diagnosis
  • Birt-Hogg-Dube Syndrome* / physiopathology
  • Case-Control Studies
  • Disease Progression
  • Female
  • Humans
  • Image Processing, Computer-Assisted / methods
  • Lung / pathology*
  • Male
  • Middle Aged
  • Netherlands
  • Pleura / pathology*
  • Pneumothorax* / etiology
  • Pneumothorax* / pathology
  • Pneumothorax* / physiopathology
  • Recurrence
  • Reproducibility of Results
  • Thoracic Surgery, Video-Assisted / methods
  • Tomography, X-Ray Computed / methods