Birt-Hogg-Dubé Syndrome: Two Patients With Different Initial Presentations

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder caused by germline mutations in the tumor suppressor folliculin gene (FLCN). This condition is characterized by benign skin hamartomas, pulmonary cysts, spontaneous pneumothorax, and an increased risk for developing kidney tumors which range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell, or papillary subtypes. We describe two cases of BHD with different initial presentations. Patients underwent genetic testing and an FLCN mutation was identified, confirming the diagnosis. Through this case series, we aim to highlight the importance of recognizing key manifestations of BHD whether alone or in combination, followed by genetic testing and counseling and the need for regular follow-ups with surveillance imaging tests to detect renal cancer early on.