Tuberous sclerosis complex

Overview

Type of disease: Genetic, autosomal dominant | Intellectual disability (no physical disability) | Rare Condition or Disease

Tuberous sclerosis complex (TSC) is a rare genetic condition that causes non-cancerous (benign) tumors to grow throughout the body. These tumors typically form in the brain, heart, kidneys, skin and lungs; causing multiple health issues. The symptoms of TSC depend on tumor location. Some people can have a severe form of TSC, causing significant health problems; while some cases are so mild that they may never be diagnosed. The most common symptoms of TSC involve the skin. These can include light patches, thickened raised areas, and small tumors under the nails. Some other common features involve the brain. These can include seizures, developmental delays, and behavior problems. TSC can also affect the kidneys, heart, and lungs. Many individuals with TSC are able to live a normal life span.

TSC is an autosomal dominant genetic condition that results from a mutation (change) in one of two different genes; TSC1 and TSC2. These genes are important instructions for cell growth and size. If a person is born with a mutation in one of these two genes, their cells will grow too fast and create benign tumors. Your physician may suspect TSC if you or your child has a combination of the symptoms associated with the condition. An electroencephalogram (EEG) may be used to diagnose seizures. A physical exam, typically performed by a skin doctor (dermatologist), may be needed to look for skin features of TSC. Genetic testing may be needed to confirm the diagnosis. There is no cure for TSC. However, early diagnosis and intervention can help address many symptoms. Medications can be used to treat seizures, while physical and occupational therapy can help with daily tasks. If a tumor prevents an organ from functioning properly, surgery may be needed. If you or your child has been diagnosed with TSC, talk with your doctor to decide which treatment option is best for you.

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