Tuberous Sclerosis from Mayo Clinic

What is it?

Tuberous sclerosis is a rare genetic disease that causes noncancerous (benign) tumors to grow in many parts of the body, such as the skin, brain and kidneys. The signs and symptoms of tuberous sclerosis vary — from patches of light-colored skin to seizures or behavior problems — depending on where the tumors develop.

In most cases, tuberous sclerosis is detected during infancy or childhood. Some people with tuberous sclerosis have such mild signs and symptoms that the condition goes undiagnosed. Others experience serious disabilities.

There's no cure for tuberous sclerosis, and there's no way to predict the course or severity of the disease. With appropriate treatment, however, many people who have tuberous sclerosis lead full, productive lives.

Symptoms?

• Skin abnormalities. Many people who have tuberous sclerosis develop patches of light-colored skin, areas of thickened skin, or growths under or around the nails. Facial lesions that resemble acne also are common.
• Neurological symptoms. Tumors in the brain can be associated with seizures, mental retardation, learning disabilities or developmental delays. Behavior problems, such as hyperactivity and aggression, may occur. Some children who have tuberous sclerosis have trouble with communication and social interaction, and in some cases may be autistic.
• Kidney problems. If tumors develop in the kidneys, potentially serious — even life-threatening — kidney problems are possible. Rarely, kidney tumors may become cancerous.
• Lung problems. Tumors that develop in the lungs may cause coughing or shortness of breath. Progression to lung failure during adulthood is possible.

For some people, the signs and symptoms of tuberous sclerosis are noticed at birth. For others, the first signs and symptoms of tuberous sclerosis become evident during childhood or even years later. If signs and symptoms are mild, the condition may go undiagnosed.

Help! My child has just been diagnosed with Tuberous Sclerosis...

If your child has been diagnosed with tuberous sclerosis, you and your family will face a number of challenges and uncertainties. One of the most difficult things about this condition is that it's impossible to predict how your child's health and development will unfold over time. Your child may have only mild problems and track closely with his or her peers in terms of academic, social and physical abilities. Or your child may have more-serious health and development problems and lead a life that's less independent or mainstream than you may have expected.

For parents, the behavioral issues that can accompany tuberous sclerosis may be the most challenging. Common problems such as raging outbursts, aggression, repetitive behaviors, or social and emotional withdrawal can be extremely hard to cope with. Remember that the behavior is not your fault — and it's not your child's fault, either. Let your child's doctor know if these problems develop. The earlier you and your child get help learning skills to manage these problems, the more likely your child is to do well in the long term.

Your love and support are essential to helping your child reach his or her full potential. Learn all you can about tuberous sclerosis, and work closely with your child's doctor to establish a frequent screening schedule for health and developmental problems. Discovering and treating problems early will maximize your child's chances of a good outcome.

You may also find it helpful to connect with other families who are coping with tuberous sclerosis. Ask your child's health care team to recommend a support group in your area, or contact the Tuberous Sclerosis Alliance (TS Alliance) to get in touch with a local representative who can help you find information and support.