DOI: 10.1093/qjmed/hcag272 ISSN: 1460-2725

Birt-Hogg- Dubé Syndrome Masquerading as Multiple Infected Pulmonary Cysts

Aparna Anil Nair, Aswathy Thazhakottuvalappil, Ameer Kavarathukudy Azeez, Arjun Padmanabhan, Aswathy Girija

Abstract

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder characterized by pulmonary cysts, fibrofolliculomas, and renal neoplasms. We report a 26-year-old woman who presented with multiple large infected cyst. This case highlights the importance of considering BHD in young patients presenting with cystic lung disease, even in the absence of characteristic cutaneous or renal manifestations.