tuberous sclerosis complex
A genetic disorder causing benign tumor growth in multiple organs, commonly presenting with seizures, developmental delays, and characteristic skin lesions.
Full Definition
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either the TSC1 or TSC2 genes, leading to dysregulation of cell growth and proliferation. The condition is characterized by the formation of benign tumors (hamartomas) in multiple organ systems, including the brain, heart, kidneys, lungs, and skin. Neurological manifestations are common and may include epilepsy (often beginning in infancy), intellectual disability, autism spectrum disorder, and behavioral problems. Brain lesions include cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas. Cutaneous features include hypomelanotic macules (ash leaf spots), facial angiofibromas, and shagreen patches. The diagnosis is based on clinical criteria and genetic testing, and management requires multidisciplinary care addressing the various organ system involvement.
Usage
Usage note: Commonly abbreviated as TSC. Avoid the outdated term 'epiloia.'
In Context
- "The presence of cortical tubers and facial angiofibromas confirmed the diagnosis of tuberous sclerosis complex." — Pediatric dermatology report
- "Genetic counseling was provided for the family following the TSC diagnosis." — Clinical genetics consultation