A unilateral presentation of papillary renal cell carcinoma in a pediatric patient with tuberous sclerosis complex: A rare case report.

Source: PubMed, NCBI / U.S. National Library of Medicine

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder predominantly identified by benign hamartomas; however, it harbors a hidden risk for early-onset malignancies. We report a 15-year-old female presenting with extensive mucocutaneous hallmarks, including facial angiofibromas and Koenen's tumors. Comprehensive systemic surveillance revealed neurological tubers, subependymal giant cell astrocytoma, and pulmonary lymphangioleiomyomatosis. Crucially, imaging identified asymptomatic right renal mass, histopathologically confirmed as papillary renal cell carcinoma following nephrectomy. This rare pediatric malignancy underscores the dermatologists role as the first line of defense. Benign skin lesions in TSC can mask aggressive internal cancers, necessitating immediate multidisciplinary screening for life-saving intervention.