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OVERVIEW

What is tuberous sclerosis?

Tuberous sclerosis is a disease that causes growths in the skin, brain, kidneys, eyes, heart or lungs. These growths are usually benign (non-cancerous). The first signs of tuberous sclerosis may be seizures and spots on the skin. Some people who have tuberous sclerosis may have learning problems or seizures that are hard to control.

Tuberous sclerosis affects every 1 in 6,000 newborns. The disorder occurs in both sexes and in people of all races and ethnic groups.

SYMPTOMS

What are the symptoms of tuberous sclerosis?

Your healthcare provider may suspect tuberous sclerosis if your baby has a condition called cardiac rhabdomyomas (benign heart tumors) at birth or starts to have seizures, especially a kind of seizure called infantile spasms.

Some signs of tuberous sclerosis can first appear later in childhood. These symptoms include:

• White spots on the skin (called hypopigmented macules) that glow under a special lamp
• A rash on the face (called facial angiofibromas) that may look like acne
• Problems with the kidneys (associated with growths in the kidneys)
• Areas of very thick skin
• Growths under or around the nails
• Coughing or shortness of breath
• Mental disabilities or developmental problems

CAUSES & RISK FACTORS

How did my child get this disorder?

About half of the time, tuberous sclerosis is passed from a parent to a child, or inherited. If one parent has tuberous sclerosis, every child born to that parent has a 50% chance of inheriting the disease. However, in about half the children who have tuberous sclerosis, the mother and father have no signs of it. Instead, sometimes a normal gene changes (mutates) to the abnormal form that causes tuberous sclerosis.

Currently, if a person has no signs or symptoms of tuberous sclerosis, there is no test to identify whether they have the tuberous sclerosis gene.

If parents who have one child with tuberous sclerosis want to have another child, they should contact their healthcare provider. The healthcare provider can refer them to a genetic counselor or medical geneticist who can help them decide what to do.

TREATMENT

How is tuberous sclerosis treated?

There is no cure for tuberous sclerosis, but your healthcare provider can treat many of the symptoms. For example, medicine can help control seizures and surgery can remove any growths. If your child has developmental problems, occupational therapy can help. Most people who have tuberous sclerosis have a normal life span.

QUESTIONS TO ASK YOUR HEALTHCARE PROVIDER

• My child is having seizures. Does my child have tuberous sclerosis?
• Can my child’s tuberous sclerosis be treated with surgery?
• Are there any medicines that can make my child better?
• I have one child who has tuberous sclerosis. If I have another baby, will the baby have tuberous sclerosis, too?
• My child has seizures related to tuberous sclerosis. What other common symptoms should I watch for?
• Will my child be developmentally delayed?

Sources

Recognizing an Index Case of Tuberous Sclerosis by JS Hurst, M.D. and S Wilcoski, M.D. (02/01/00, http://www.aafp.org/afp/20000201/703.html)