TSCassociated

Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. It is caused by mutations in either the TSC1 or TSC2 gene, which are inherited in an autosomal dominant pattern. This means that a person with TSC has a 50% chance of passing the mutated gene to each of their children.

Individuals with TSC may develop tumors in the brain, skin, kidneys, and other organs. Common features include seizures, developmental delays or intellectual disability, and skin abnormalities such as facial angiofibromas (adenoma sebaceum), shagreen patches, and hypomelanotic macules. Other manifestations can include kidney cysts or tumors, lung lymphangioleiomyomatosis (LAM), and retinal hamartomas.

TSC is associated with an increased risk of developing certain conditions, including autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and psychiatric disorders. The severity of symptoms can vary widely among individuals, from mild to severe.

Diagnosis is typically made based on clinical features and genetic testing. Management is multidisciplinary and focuses on controlling symptoms, monitoring for complications, and providing supportive care. Treatment may include medications for seizures or other symptoms, and in some cases, surgical intervention for tumors.