Recurrent spontaneous pneumothorax in a patient with Birt-Hogg-Dubé syndrome

Recurrent spontaneous pneumothorax is a disorder often managed by thoracic surgeons. Most etiologies are benign in nature; however, there are several syndromes that are associated with potentially fatal pulmonary or systemic manifestations. One such example is Birt-Hogg-Dubé syndrome, a rare inheritable syndrome characterized by papular skin lesions involving the scalp, head, face and neck; pulmonary cysts; and a propensity to develop renal carcinoma. In our report, we describe a patient, who was diagnosed with Birt-Hogg-Dubé syndrome after presenting with a history of recurrent spontaneous pneumothorax, and a family history of spontaneous pneumothorax and renal cell carcinoma. This case is of particular interest to the cardiothoracic surgery community as the patient described as well as several of his family members were managed by multiple thoracic surgeons, who did not appreciate the diagnosis.