Medical Services

Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations in either the TSC1 or TSC2 genes, which encode the proteins hamartin and tuberin, respectively. These proteins form a critical complex that regulates cell growth and proliferation by inhibiting the mammalian target of rapamycin (mTOR) pathway. Loss of function in TSC1 or TSC2 leads to unchecked mTOR activation, resulting in the formation of benign tumors, known as hamartomas, in multiple organs.

The brain, kidneys, and skin are among the most commonly affected organs in TSC. In the brain, TSC often causes cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas (SEGAs), which can lead to seizures, developmental delays, and other neurological symptoms. Kidney involvement includes angiomyolipomas—benign tumors composed of blood vessels, muscle, and fat—that can cause bleeding and impaired renal function. Skin manifestations are diverse and often conspicuous, including hypomelanotic macules ("ash leaf spots"), facial angiofibromas, shagreen patches, and ungual fibromas.

TSC is a multisystem disorder with highly variable expression, making diagnosis and management challenging. Advances in molecular genetics have facilitated early diagnosis, and mTOR inhibitors like everolimus have emerged as effective treatments to reduce tumor size and improve symptoms.