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Case Reports
Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.
- Andrew Auerbach, David H Roberts, Sidhu P Gangadharan, and Michael S Kent.
- Division of Thoracic Surgery and Interventional Pulmonology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
- Ann. Thorac. Surg. 2014 Jul 1;98(1):325-7.
AbstractBirt-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.Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.
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