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Tuberous Sclerosis
Pronunciation
Definition 1
A genetic disorder in which benign (not cancer) tumors form in the kidneys, brain, eyes, heart, lungs, and skin. This disease can cause seizures, mental disabilities, and different types of skin lesions. (NCI Dictionary)
Definition 2
Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. (NCI Thesaurus)
More information
Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include
• Skin problems, such as light patches and thickened skin
• Seizures
• Behavior problems
• Intellectual disabilities
• Kidney problems
Some people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening.
Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications. (NIH: National Institute of Neurological Disorders and Stroke)
Also called: TSC, Tuberous sclerosis complex