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  • Title: Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.
    Author: Auerbach A, Roberts DH, Gangadharan SP, Kent MS.
    Journal: Ann Thorac Surg; 2014 Jul; 98(1):325-7. PubMed ID: 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.
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