• Kyung Soo Kim, Hang Jun Choi, Woori Jang, Hyojin Chae, Myungshin Kim, and Seok Whan Moon.
• Departments of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea.
• Korean J Thorac Cardiovasc Surg. 2017 Oct 1; 50 (5): 386-390.

AbstractBirt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.

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