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The Annals of thoracic surgery

Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.


PMID 24996715

Abstract

Birt-Hogg-Dubé (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene. We report a patient with familial spontaneous pneumothorax who was found to have BHD syndrome. Patients with a personal and family history of pneumothoraces and computed tomographic (CT) findings of multiple pulmonary cysts should alert the thoracic surgeon to this syndrome; additional evaluation and testing may be warranted.