Tuberous Sclerosis Complex

Tuberous Sclerosis Complex is a genetic disorder that causes growth of benign tumors in many parts of the body, including the brain, skin, kidneys, and heart. These tumors can affect how organs work and may lead to problems such as seizures, developmental delays, and skin abnormalities. The condition involves changes in the body's cells that cause them to grow uncontrollably but usually not spread like cancer. People with this disorder often have distinctive skin patches and may experience learning difficulties or behavioral issues. The severity and symptoms can vary widely from person to person.

Tuberous Sclerosis Complex is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes, which encode the proteins hamartin and tuberin, respectively. These proteins normally inhibit the mTOR pathway, a key regulator of cell growth and proliferation. Loss of this inhibition leads to the formation of hamartomas—benign tumor-like malformations—in multiple organs. The disease is characterized by neurologic manifestations such as seizures and intellectual disability, cutaneous findings like hypomelanotic macules and facial angiofibromas, and renal angiomyolipomas. Cardiac rhabdomyomas are common in infants. The disorder has variable expressivity and can present with a wide spectrum of clinical severity.