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 people in the United States. The disorder occurs in both sexes and in people of all races and ethnic groups.

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. It seems that sometimes a normal gene changes (mutates) to the abnormal form that causes tuberous sclerosis.

Currently, there is no test to identify a person who has the tuberous sclerosis gene if that person has no signs or symptoms of it.

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

Your doctor 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.

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

Unfortunately, there is no cure for tuberous sclerosis, but your doctor 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.