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- Nishant Gupta, Bernie Y Sunwoo, and Robert M Kotloff.
- Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, 231 Albert Sabin Way, MSB Room 6053, ML 0564, Cincinnati, OH 45267, USA. Electronic address: guptans@ucmail.uc.edu.
- Clin. Chest Med. 2016 Sep 1; 37 (3): 475-86.
AbstractBirt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the Folliculin gene and is characterized by the formation of fibrofolliculomas, early onset renal cancers, pulmonary cysts, and spontaneous pneumothoraces. The exact pathogenesis of tumor and lung cyst formation in BHD remains unclear. There is great phenotypic variability in the clinical features of BHD, and patients can present with any combination of skin, pulmonary, or renal findings. More than 80% of adult patients with BHD have pulmonary cysts on high-resolution computed tomography scan of the chest.Published by Elsevier Inc.
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