What Is Tuberous Sclerosis?

In tuberous sclerosis, small tumors grow in many parts of the body, such as the skin, kidneys, brain, heart, eyes, and lungs. The tumors aren’t malignant (cancerous) but can cause other problems. The disorder affects about 1 in 10,000 people.

What Causes Tuberous Sclerosis?

Tuberous sclerosis is a genetic disease. It runs in families and is passed from parents to children. Two genes pass on this disorder. They are on chromosomes 9 (TSC1 gene) and 16 (TSC2 gene). However, only one-third of cases are familial. The others can result from new mutations. Mutations are changes in DNA, the chemical that carries genetic instructions.

What Are the Signs and Symptoms of Tuberous Sclerosis?

The disease is present at birth, but signs and symptoms may not start right away. Diagnosis is usually made by age 10. Most people have tumors only in one part of the body, such as the skin. Symptoms vary among people and can range from mild to severe. Severe symptoms can include learning problems, but many people have normal or above-normal IQs. In addition to small tumors, common symptoms are white patches on the skin (often on legs) and red bumps on the face (often in a butterfly pattern). Others are areas of rough pebbly skin (usually on the lower back) and fleshy tumors around the nails (especially toenails). Tooth enamel can be pitted, and spasms or seizures can occur. Mental or physical development can be delayed. This depends on where tumors are in the brain.

How Is Tuberous Sclerosis Diagnosed?

This disease is hard to diagnose. The health care provider uses the medical history and physical examination for a preliminary diagnosis. Seizures, spasms, or red bumps on the face may raise suspicion of this disease. Many tests may be done. They include electroencephalography (EEG), to check brain activity. Magnetic resonance imaging (MRI) is used to look for tumors. Echocardiography and electrocardiography (ECG) determine if the heart is affected. Eyes are examined for the presence of abnormalities. Urine tests are done to look for kidney problems. Different specialists may be involved in the care of this complex disorder.

How Is Tuberous Sclerosis Treated?

Many kinds of treatment may be needed, depending on how severe the disease is. Some people with mild disease may be undiagnosed and need no treatment. Skin tumors can be removed by lasers or surgery. Medicines treat seizures and tumors in the lungs. Surgery may get rid of tumors inside the body, such as those in the kidneys or brain. Children may need screening for psychiatric, behavioral, and developmental problems. Early intervention can help children do their best in the classroom. This disease has lifelong effects. Even after treatment, people need regular checkups. Treatment can be repeated if tumors grow back.

DOs and DON’Ts in Managing Tuberous Sclerosis:
  • DO join a support group for families with this disease or other genetic diseases.
  • DO talk to a genetic counselor about the effect of this disease on other or future children.
  • DON’T ignore symptoms. Call your health care provider if your child’s symptoms don’t get better or they worsen with treatment. Call if you see new symptoms.

Contact the following source:

  • National Institute of Neurological Disorder and Stroke
    Web: tuberous_sclerosis.htm
  • Tuberous Sclerosis Alliance
    Tel: 800-225-6872

Copyright © 2016 by Saunders, an imprint of Elsevier, Inc.

Ferri’s Netter Patient Advisor