Tuberous Sclerosis Complex

What is tuberous sclerosis complex?

Tuberous sclerosis complexis a rare genetic disease that causes noncancerous tumors to grow in many parts of the body.

Tuberous sclerosis complex is often detected during infancy or childhood. Some with tuberous sclerosis complex have mild symptoms that don’t lead to diagnosis until adulthood, while others experience serious hardships.

What are the symptoms of tuberous sclerosis complex?

Tuberous sclerosis complex symptoms include noncancerous tumors or other lesions that grow in many parts of the body, but most commonly in the brain, kidneys, heart, lungs, and skin.

Symptoms can range from mild to severe, including:

Skin abnormalities, such as patches of light-colored skin, small areas of thickened skin, and growths under or around the nails.
Facial lesions that resemble acne
Seizures
Developmental delays
Behavior problems such as:
- Hyperactivity
- Raging outbursts
- Aggression
- Repetitive behaviors
- Social and emotional withdrawal
Communication and social interaction problems
Kidney issues
Heart problems
Lung problems
Eye abnormalities

What causes tuberous sclerosis complex?

Tuberous sclerosis complex is caused by a mutation in one of two different genes, the TSC1 gene or the TSC2 gene. Normally, these genes are thought to prevent cells from growing too fast or in an uncontrolled manner. Mutations in either of these genes can cause cells to divide excessively, which leads to numerous lesions throughout the body.

How is tuberous sclerosis complex diagnosed?

A diagnosis of tuberous sclerosis complex is based upon observation of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized tests.

What treatments are available for tuberous sclerosis complex?

There’s no cure for tuberous sclerosis complex, but treatment can help manage specific signs and symptoms.

Where can I find out more about tuberous sclerosis complex?