Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic disorder that causes noncancerous tumors to grow in various parts of the body. The condition is caused by mutations in one of two genes, TSC1 or TSC2, which are responsible for regulating cell growth and division.
TSC can affect multiple organs, including the brain, skin, kidneys, heart, and lungs. Symptoms vary widely depending on the location and size of the tumors but may include seizures, intellectual disability, developmental delays, skin lesions, kidney problems, and lung complications.
Diagnosis of TSC typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Treatment may involve a variety of interventions depending on the specific symptoms and organ involvement, such as antiepileptic medications for seizures, surgical removal of tumors, or targeted therapies to block cell growth in affected organs.
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