Tuberous

Tuberous sclerosis (also known as Tuberous sclerosis complex or TSC) is a rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system and can result in a combination of symptoms including seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease.

Symptoms and signs

Tuberous sclerosis is often identified in infancy or childhood. Many people with TSC have skin abnormalities that can occur anywhere on the body, including facial angiofibromas, forehead plaques, shagreen patches, and ungual fibromas. Neurological symptoms can include seizures, intellectual disability, developmental delay, and behavioral problems.

Causes

Tuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes. 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 is based on a clinical evaluation, a detailed patient history, and a variety of specialized tests. These tests can include a thorough neurological evaluation, advanced imaging techniques, and genetic testing.

Treatment

There is currently no cure for tuberous sclerosis, but treatment can help manage symptoms. Treatment options can include medications to control seizures, special educational programs for developmental delays, and surgery to remove tumors.

See also

• Genetic disorder
• Benign tumor
• Seizure

References

Tuberous Resources
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