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Tuberous sclerosis

Medically reviewed by Drugs.com. Last updated on Dec 6, 2022.

Overview

Tuberous sclerosis (TOO-bur-us skluh-ROH-sis), also called tuberous sclerosis complex (TSC), is an uncommon genetic disorder that causes tumors to develop in many parts of the body. These tumors are not cancer. Noncancerous tumors, also called benign tumors, are overgrowths of cells and tissue that are not expected. Symptoms vary widely, depending on where the growths develop and how big they get.

Tuberous sclerosis is often first found during infancy or childhood. Sometimes tuberous sclerosis can have such mild symptoms that the condition isn't diagnosed until adulthood, or it's not diagnosed at all. Sometimes tuberous sclerosis causes serious disabilities.

There is no cure for tuberous sclerosis, and the course of the disorder and how bad it gets can't be predicted. But treatments are available to manage symptoms.

Symptoms

Tuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes, kidneys, heart and lungs. But any part of the body can be affected. Symptoms can range from mild to severe, depending on the size or location of the growths.

Although symptoms are different for each person with tuberous sclerosis, they can include:

When to see a doctor

Symptoms of tuberous sclerosis may be noticed at birth. Or the first symptoms may appear during childhood or even years later in adulthood.

Contact your child's health care provider if you're concerned about your child's development or you notice any symptoms of tuberous sclerosis.

Causes

Tuberous sclerosis is a genetic disorder caused by gene changes — sometimes called mutations — in either the TSC1 or the TSC2 gene. These genes are thought to prevent cells from growing too fast or in an out-of-control way. Changes in either of these genes can cause cells to grow and divide more than needed. This leads to multiple growths throughout the body. These growths are considered noncancerous tumors.

Risk factors

Tuberous sclerosis can be the result of either:

If you have tuberous sclerosis, you have up to a 50% chance of passing the changed gene and the disorder to your biological children, which means children related to you by blood may inherit that gene. How bad the disorder gets may vary. A parent with tuberous sclerosis may have a child who has a milder or a more severe form of the disorder.

Complications

Depending on where the noncancerous tumors grow and their size, they can cause severe or life-threatening complications. Here are some examples:

Diagnosis

Depending on symptoms, you or your child may see several different specialists who are experts in tuberous sclerosis. These may include specialists in problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist) and kidneys (nephrologist). Other specialists may be included as needed.

The health care provider usually does a physical exam and talks with you about symptoms and family history. The provider looks for growths, also called noncancerous tumors, that are commonly caused by tuberous sclerosis. The provider also will likely order several tests — including blood tests and genetic tests — to diagnose tuberous sclerosis and identify related problems.

Seizure evaluation

Diagnostic testing will likely include an electroencephalogram (eh-lek-tro-en-SEF-uh-lo-gram), sometimes called an EEG. This test records electrical activity in the brain and can help determine what's causing seizures.

Brain, lungs, kidneys and liver evaluation

To detect growths in the body, tests may include:

Heart evaluation

To determine whether the heart is affected, tests usually include:

Eye exam

A light and magnifying lens are used to look at the inside of the eye, including the retina.

Dental exam

This exam involves looking at the teeth and the inside of the mouth. It will likely include X-rays of the teeth and jaws.

Developmental or mental health evaluation

If needed based on screening, an evaluation with a psychiatrist, psychologist or other mental health provider can help identify delays in development, limits in a child's ability to learn and function, educational or social problems, or behavioral or emotional disorders.

Genetic testing

Genetic testing can confirm the diagnosis of tuberous sclerosis. If a child is diagnosed with tuberous sclerosis without a family history of the condition, both parents may want to consider genetic testing for tuberous sclerosis for themselves. Genetic counseling can help parents understand the risk of tuberous sclerosis for their other children and any future children.

People with tuberous sclerosis may consider genetic counseling before their child-bearing years to understand their risk of passing on the condition and their options.

Treatment

Although there is no cure for tuberous sclerosis, treatment can help manage specific symptoms. For example:

Ongoing monitoring

Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up because many symptoms may take years to develop. A schedule of regular appointments with your health care provider throughout life may include tests such as those done during diagnosis. Finding and managing problems early can help prevent complications.

Coping and support

If your child is diagnosed with tuberous sclerosis, you and your family may face several 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 keep up with peers in terms of academic, social and physical abilities. Or your child may have more-serious health and developmental problems and lead a life that is less independent or is different from what you may have expected.

To help you and your child cope, here's what you can do:

Preparing for an appointment

Symptoms of tuberous sclerosis may be noticed at birth. Or you may notice something and raise concerns with your child's health care provider. After an exam, your child may be referred to one or more specialists for testing and treatment.

You may want to ask a trusted family member or friend to join you for the appointment. Take someone along who can offer emotional support and can help you remember all the information.

Here's some information to help you get ready for your first appointment.

What you can do

Before your appointment, make a list of:

Questions to ask your child's health care provider may include:

Questions to ask if you're referred to a specialist include:

What to expect from your doctor

A health care provider who sees your child for possible tuberous sclerosis will ask you several questions. Be ready to answer them so you have time to discuss whatever is most important to you.

Questions may include:

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