Spontaneous Pneumothorax and Facial Papules: Birt-Hogg-Dubé Syndrome

Abstract

Spontaneous pneumothorax typically occurs sporadically, however, familial cases occur. We report a case of familial spontaneous pneumothorax secondary to Birt-Hogg-Dubé syndrome (BHDS) diagnosed after the development of characteristic facial papules.BHDS is an autosomal dominant genodermatosis characterized by a triad of spontaneous pneumothorax, facial papules, and renal neoplasms. Clinicians should perform cutaneous exams and ask about a family history of facial papules in patients with familial spontaneous pneumothorax to identify this syndrome and consider screening for underlying renal neoplasms.