Tuberous sclerosis complex

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Tuberous Sclerosis Complex (pronunciation: too-ber-ous skle-roh-sis com-plex) is a genetic disorder that causes non-cancerous (benign) tumors to grow in many parts of the body. The name Tuberous Sclerosis Complex comes from the Latin word tuber meaning swelling and the Greek word sclerosis meaning hardness, referring to the characteristic hard, tumor-like growths that occur in this condition.

Symptoms

The signs and symptoms of Tuberous Sclerosis Complex can vary widely, depending on where the tumors develop and how severely a person is affected. Common symptoms include skin abnormalities, seizures, cognitive disabilities, behavioral problems, and lung and kidney disease.

Causes

Tuberous Sclerosis Complex is caused by mutations in the TSC1 or TSC2 gene. These genes are involved in regulating cell growth, and their mutation leads to uncontrolled cell growth and the formation of tumors.

Diagnosis

Diagnosis of Tuberous Sclerosis Complex often involves a thorough physical examination, a detailed patient history, and a variety of specialized tests. These tests may include genetic testing, MRI scans, CT scans, and ultrasound imaging.

Treatment

There is currently no cure for Tuberous Sclerosis Complex. Treatment is aimed at managing symptoms and may include medications to control seizures, special educational programs for developmental delays, and surgery to remove tumors.

Prognosis

The prognosis for individuals with Tuberous Sclerosis Complex varies. Some individuals live normal, healthy lives with minimal symptoms, while others may experience significant health problems.

See Also

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