Birt–Hogg–Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas

Abstract

Abstract The authors present a rare case of Birt–Hogg–Dubé (BHD) syndrome that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD, despite the patient’s history of pneumothoraces. This female patient complained of numerous recurrent, small skin-colored growths on the face and neck and patchy hypopigmentation from the multiple treatments she had to undergo for her “bumpy skin.” She also suffered 4 spontaneous pneumothoraces. Following histopathologic and genetic testing, the patient was diagnosed with BHD. Computed tomography and ultrasound scans revealed multiple cysts in both lungs and an angiomyolipoma in both kidneys. This patient had undergone a variety of treatments to aesthetically remove and heal her skin bumps from several healthcare providers, all of whom had misdiagnosed her condition. Level of Evidence: 5