Recurrent Spontaneous Pneumothorax as the Presenting Sign of the Birt–Hogg–Dubé Syndrome

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.

Case Report: A 33-year-old white woman presented with several hours of pleuritic chest pain and dyspnea after a long airplane flight. …