Familial Spontaneous Pneumothorax

Hsienchang Thomas Chiu; Christine Kim Garcia


Curr Opin Pulm Med. 2006;12(4):268-272. 

In This Article


It is of particular interest to the pulmonologist that multiple different mutations in the gene encoding folliculin have been found in several families with familial spontaneous pneumothorax. These families represent part of the phenotypic spectrum of Birt-Hogg-Dubé syndrome, with the pneumothorax being one of the first presenting manifestations of the syndrome. While all patients with familial spontaneous pneumothorax should be evaluated for Marfan syndrome, Ehlers-Danlos syndrome and α1-antitrypsin deficiency, one should also look carefully for skin folliculomas and ask about a personal or family history of renal cancer. High-resolution CT scans of the chest documenting the presence of pulmonary cysts and their distribution may provide important clues to this disorder.


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