Humpath.com - Human pathology

Home > E. Pathology by systems > Respiratory system > Pleura > spontaneous pneumothorax

spontaneous pneumothorax

Wednesday 2 March 2005

Etiology

- primary spontaneous pneumothorax

  • mutations of FLCN gene at 17p11.2 coding for folliculin (MIM.607273)

- secondary spontaneous pneumothorax

  • Birt-Hogg-Dube syndrome (MIM.135150) (FLCN mutations at 17p11.2)
  • heritable disorders of connective tissue
    • Marfan syndrome
    • Ehlers-Danlos syndromes