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.


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