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

The 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 recognizing skin lesions associated with BHDS for early diagnosis and regular screening with abdominal CT scans to detect renal tumors at an early stage. The document also discussed the genetic aspects of BHDS, noting that the BHD gene is considered a tumor suppressor gene. The study of BHDS has contributed to understanding hereditary renal neoplasia and the identification of genes predisposing individuals to renal cell carcinoma.