Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant condition identified by the triad of cutaneous fibrofolliculomas, pulmonary cysts, and renal cell carcinoma. The vast majority of patients with BHD syndrome initially present with spontaneous pneumothorax. This unique case describes a patient with BHD syndrome who presented with sebaceous cysts and perifollicular fibromas. The evaluation by dermatology is what led to his diagnosis. Expanding the clinical presentation of BHD syndrome to encompass a variety of skin findings could help with recognizing these patients before they suffer the serious complications of renal carcinoma and pneumothorax.
Keywords: birt-hogg-dubé syndrome; carcinomas renal cell; fibrofolliculomas; flcn; genodermatosis; mtor; perifollicular fibroma; pneumothorax (ptx); sebaceous cyst.
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