A number of hereditary disorders are associated with spontaneous pneumothorax.
Patient selection: familial spontaneous pneumothorax
Differential diagnosis:
(1) Marfan syndrome
(2) homocystinuria
(3) Ehlers-Danlos syndrome
(4) alpha-1 antitrypsin deficiency
(5) Birt-Hogg-Dube syndrome
The diagnosis of familial spontaneous pneumothorax requires exclusion of other causes of pneumothorax.
