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.
Tuberous sclerosis causes noncancerous tumors to grow in many parts of the body, such as in the skin, brain and kidneys. Sometimes tumors grow in other parts of the nervous system or in the heart, lungs or the light-sensitive tissue at the back of the eye (retina). The signs and symptoms of tuberous sclerosis vary, depending on where the tumors develop.
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.
When to see a doctor
Tuberous sclerosis is a genetic disease caused by mutations in the TSC1 or 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 tumors throughout the body. Researchers don't know what causes these genetic mutations.
Tuberous sclerosis affects an estimated 1 in 6,000 people, according to the Tuberous Sclerosis Alliance.
About one-third of people who have tuberous sclerosis inherit an altered TSC1 or TSC2 gene — the genes associated with tuberous sclerosis — from a parent who has the disease. About two-thirds of people who have tuberous sclerosis have a new mutation in either the TSC1 or TSC2 gene.
If you have tuberous sclerosis, you have a 50 percent chance of passing the condition to your biological children. Severity of the condition may vary. A parent who has mild tuberous sclerosis may have a child who has a more severe form of the disease.
Complications of tuberous sclerosis vary, depending on where the tumors develop.
Preparing for your appointment
Call your child's doctor if your child shows any signs common to tuberous sclerosis, including seizures, a reddish rash on the face, white patches anywhere on the skin or developmental problems. After an initial exam, your child's doctor may refer you to one or more medical and genetics specialists for thorough testing and treatment.
Here's some information to help you get ready for your first appointment, and what to expect from your doctor.
What you can do
Questions to ask your child's doctor at the initial appointment include:
Questions to ask if you're referred to a specialist include:
What to expect from your doctor
Tests and diagnosis
Your child will likely be evaluated by many different types of specialists, including those trained to diagnose and treat problems of the brain (neurologist), eyes (ophthalmologist), skin (dermatologist) and kidneys (nephrologist). These doctors will order a number of tests to diagnose tuberous sclerosis.
If your child has had seizures, diagnostic testing will likely include:
To detect abnormal growths on the brain and kidneys, diagnostic testing will likely include:
To determine whether your child's heart is affected, diagnostic testing will likely include:
In addition, your child's eyes and skin will be thoroughly examined for lesions commonly associated with tuberous sclerosis.
If a child is diagnosed with tuberous sclerosis without a family history of the condition, both parents may consider screening for tuberous sclerosis as well. Follow-up care and monitoring is important, even for mild cases of tuberous sclerosis that were previously undiagnosed.
Treatments and drugs
There's no cure for tuberous sclerosis, but treatment can help manage specific signs and symptoms. For example:
Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up. With appropriate treatment, however, many people who have tuberous sclerosis lead full, productive lives and enjoy a normal life expectancy.
Coping and support
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.
Last Updated: 2009-10-10
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