A 40-Year-Old Woman With Facial Papules and Flank Pain

This document described a case of a 40-year-old woman diagnosed with Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant genodermatosis characterized by cutaneous hair follicle tumors, pulmonary cysts, and an increased risk of renal neoplasia. The patient presented with facial papules and flank pain, and further examination revealed chromophobe renal cell carcinomas. BHDS patients have a higher likelihood of developing renal tumors early in life, often presenting with multiple, bilateral tumors. The study highlighted the importance of regular screening for renal tumors in BHDS patients to enable early treatment and avoid long-term hemodialysis. The BHD gene, associated with BHDS, is considered a tumor suppressor gene, and its role in tumorigenesis was still being studied. The document emphasized the need for physicians to recognize BHDS skin lesions and conduct appropriate screenings for associated conditions.