Joshua M. Diamond, MD; Robert M. Kotloff, MD
Potential Financial Conflicts of Interest: None disclosed.
Diamond J., Kotloff R.; Recurrent Spontaneous Pneumothorax as the Presenting Sign of the Birt–Hogg–Dubé Syndrome. Ann Intern Med. 2009;150:289-290. doi: 10.7326/0003-4819-150-4-200902170-00027
Download citation file:
Published: Ann Intern Med. 2009;150(4):289-290.
Background: The Birt–Hogg–Dubé syndrome is a rare autosomal dominant disorder, first described in 1977 (1), initially characterized by its chief dermatologic manifestation, cutaneous fibrofolliculoma. We now know that the syndrome is associated with an increased risk for renal tumors and pulmonary cysts. Cysts are found in 90% of patients with the syndrome, resulting in a 24% risk for spontaneous pneumothorax. The underlying pathology is a germline mutation in the tumor suppressor BHD gene encoding folliculin (2).
Objective: To report a case of the Birt–Hogg–Dubé syndrome that manifested clinically as recurrent pneumothorax.
to gain full access to the content and tools.
Learn more about subscription options.
Register Now for a free account.
Copyright © 2016 American College of Physicians. All Rights Reserved.
Print ISSN: 0003-4819 | Online ISSN: 1539-3704
Conditions of Use
This PDF is available to Subscribers Only