Tuberous sclerosis (TWO-bur-uhs skluh-ROH-sis), also called tuberous sclerosis complex, is a rare genetic disease that causes noncancerous (benign) tumors to grow in many parts of the body. The signs and symptoms of tuberous sclerosis vary widely, depending on where the tumors develop and how severely a person is affected.

Tuberous sclerosis is often detected during infancy or childhood. Some people with tuberous sclerosis have such mild signs and symptoms that the condition isn't diagnosed until adulthood, or it goes undiagnosed. Others experience serious disabilities.

Although there's no cure for tuberous sclerosis, treatments are being studied. The course or severity of the disease can't be predicted, but with appropriate care, many people who have tuberous sclerosis lead full, productive lives.

Tuberous sclerosis symptoms include noncancerous tumors or other lesions that grow in many parts of the body, but most commonly in the brain, kidneys, heart, lungs and skin. Symptoms can range from mild to severe.

Tuberous sclerosis signs and symptoms vary, depending on where the tumors or other lesions develop:

  • Skin abnormalities. Some people with tuberous sclerosis have patches of light-colored skin, or they may develop small, harmless areas of thickened skin, or growths under or around the nails. Facial lesions that resemble acne also are common and can be treated.
  • Seizures. Lesions in the brain may be associated with seizures, which can be the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm shows up as repetitive spasms of the head and legs.
  • Developmental delays. Tuberous sclerosis can be associated with intellectual disability, learning disabilities or developmental delays.
  • Behavior problems. Common behavior problems may include hyperactivity, raging outbursts, aggression, repetitive behaviors, or social and emotional withdrawal.
  • Communication and social interaction problems. Some children with tuberous sclerosis have trouble with communication and social interaction. And some children may have autism spectrum disorder.
  • Kidney problems. Most people with tuberous sclerosis develop lesions on their kidneys, and they may develop more lesions as they age, sometimes damaging kidney function.
  • Heart problems. These lesions, if present, are usually largest at birth and shrink as the child gets older.
  • Lung problems. Lesions that develop in the lungs (pulmonary leiomyomas) may cause coughing or shortness of breath, especially with physical activity or exercise.
  • Eye abnormalities. Lesions can appear as white patches on the light-sensitive tissue at the back of the eye (retina). These do not always interfere with vision.

When to see a doctor

Signs and symptoms of tuberous sclerosis may be noticed at birth. Or the first signs and symptoms of tuberous sclerosis may become evident during childhood or even years later in adulthood.

Contact your child's doctor if you're concerned about your child's development or you notice any of the signs or symptoms of tuberous sclerosis described above.

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 lesions throughout the body.

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 up to a 50 percent chance of passing the condition to your biological children. Severity of the condition may vary. A parent who has tuberous sclerosis may have a child who has a milder or more severe form of the disorder.

Depending on where the tumors or other lesions develop and their size, they can cause severe or life-threatening complications. Here are some examples of complications.

  • Lesions in the brain known as subependymal giant cell astrocytomas (SEGAs) can block the flow of cerebral spinal fluid within the brain. This blockage can cause the buildup of fluid in the cavities — ventricles — deep within the brain (hydrocephalus) with various signs and symptoms, including nausea, headaches and behavior changes.
  • Lesions in the heart, usually in infants, can block blood flow or cause problems with heart rhythm (dysrhythmia).
  • Lesions in the kidney can be large and cause potentially serious — even life-threatening — kidney problems. Lesions in the kidney can cause bleeding or lead to kidney failure. Rarely, kidney lesions can become cancerous.
  • Lesions in the lungs can lead to lung failure.
  • Lesions in the eye can interfere with vision if they block too much of the retina, though this is rare.

You'll likely initially bring up your concerns with your child's doctor. But after an exam, your child may be referred to one or more medical and genetic specialists for more testing and treatment.

Here's some information to help you get ready for your first appointment, and know what to expect from your doctor.

What you can do

Before your appointment, make a list of:

  • Any signs and symptoms your child has been experiencing, and for how long. If your child has had one or more seizures, make notes about what happened before, during and after the seizure and how long it lasted.
  • Your child's key medical information, including other recent health problems.
  • All medications, vitamins and other supplements your child is taking and the dosages.
  • Information about your family history, including whether anyone else in your family has tuberous sclerosis.
  • Questions you want to ask your doctor.

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 of the information.

Questions to ask your child's doctor at the initial appointment include:

  • What is likely causing my child's symptoms?
  • Are there any other possible causes for these symptoms?
  • What kinds of tests does my child need?
  • Should my child see a specialist?

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

  • Does my child have tuberous sclerosis?
  • What are the treatment options for this condition?
  • What treatment approach do you recommend for my child?
  • What are the possible complications of this condition?
  • How often will you want to evaluate my child's health and development?
  • Are my other children or family members at increased risk of this condition?
  • Should I or my child be tested for the genetic mutations associated with this condition?
  • What other types of specialists should my child see?
  • Are there clinical trials under way for which my child may be eligible?
  • How can I help my child cope with this disorder?
  • How can I find other families who are coping with tuberous sclerosis?

What to expect from your doctor

A doctor who sees your child for possible tuberous sclerosis will likely ask you a number of questions. Be ready to answer them to reserve time to go over points you want to talk about in-depth. The doctor may ask:

  • What are your child's symptoms?
  • When did you first notice these symptoms?
  • Has your child had any seizures?
  • If your child has had one or more seizures, what had he or she been doing right before the seizure?
  • What happens to your child during a seizure?
  • How long have your child's seizures lasted, and how has your child felt and acted afterward?
  • Have your child's symptoms included nausea and vomiting?
  • Has your child had any behavior problems, such as hyperactivity, aggression, rage or self-injury?
  • Does your child have difficulty paying attention?
  • Has your child seemed to withdraw or become less socially and emotionally engaged?
  • Does your child seem developmentally delayed compared with his or her peers?
  • Have any of your child's first-degree relatives — such as a parent or sibling — been diagnosed with tuberous sclerosis or had symptoms without ever being diagnosed?
  • Do you plan on having more children?

Your child may be evaluated by several different specialists, including those trained to diagnose tuberous sclerosis (geneticist) and those trained to treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist) and kidneys (nephrologist).

These doctors will look for typical tumors or lesions commonly associated with tuberous sclerosis. They also will likely order several tests to diagnose tuberous sclerosis.

If your child has had seizures, diagnostic testing will likely include an electroencephalogram (EEG). This test records electrical activity in the brain and can help pinpoint what's causing your child's seizures.

To detect abnormal growths on the brain and kidneys, diagnostic testing will likely include:

  • Magnetic resonance imaging (MRI). This test uses a magnetic field and radio waves to create detailed images of the brain or other parts of the body.
  • Computerized tomography (CT) scan. This X-ray technique produces cross-sectional images, and sometimes 3-D images, of the brain or other parts of the body.
  • Ultrasound. Also called sonography, this test uses high-frequency sound waves to create images of certain body parts, such as the kidneys.

To determine whether your child's heart is affected, diagnostic testing will likely include:

  • Echocardiogram. This test uses sound waves to produce images of the heart.
  • Electrocardiogram (ECG or EKG). This test records the electrical activity of the heart.

Ongoing monitoring

Follow-up care and monitoring is important, even for mild cases of tuberous sclerosis. A schedule of regular follow-up monitoring throughout life also may include the above tests.

Family members

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.

Parents also may consider genetic testing to confirm the diagnosis of tuberous sclerosis in their child, and to understand the risk of tuberous sclerosis for their other children and any future children.

There's no cure for tuberous sclerosis, but treatment can help manage specific signs and symptoms. For example:

  • Medication. Anti-epileptic drugs may be prescribed to control seizures, and other medications may help manage behavior problems. A medication called everolimus (Afinitor, Zortress) may be used to treat certain types of brain growths and kidney tumors that can't be surgically removed in people with tuberous sclerosis. The topical ointment form of a drug called sirolimus may help treat acne-like skin lesions that can occur in tuberous sclerosis.
  • Educational therapy. Early intervention can help children make adaptations to developmental delays and meet their full potential in the classroom.
  • Occupational therapy. Through occupational therapy, a person who has tuberous sclerosis can improve his or her ability to handle daily tasks.
  • Psychological therapy. Talking with a mental health therapist may help you or your child accept and adjust to living with this disorder.
  • Surgery. If a lesion affects the ability of a specific organ — such as the kidney or heart — to function, the lesion may be surgically removed. Sometimes surgery helps control seizures caused by brain lesions that don't respond to medication. Surgical procedures such as dermabrasion or laser treatment may improve the appearance of skin lesions.

Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up because many signs and symptoms may take years to develop. With appropriate care, however, many people who have tuberous sclerosis lead full, productive lives and enjoy a normal life expectancy.

If your child is 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 developmental problems and lead a life that's less independent or different from what you may have expected.

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

  • Establish a screening schedule. Learn all you can about tuberous sclerosis, and work closely with your child's doctor to establish an ongoing screening and monitoring schedule for health and developmental problems. Discovering and treating problems early will maximize your child's chances of a good outcome.
  • Get help early for behavior problems. For parents, the behavior issues that may accompany tuberous sclerosis can be challenging. Remember that the behavior is not your fault — and it's not your child's fault either. Talk to your child's doctor if these problems develop, and work with your child's school to discuss education services. The earlier you and your child get help learning how to manage these problems, the more likely your child is to do well in the long term.
  • Provide love and support. Your love and support are essential to helping your child reach his or her full potential.
  • Connect with other families. You may 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 Association to find out about support.
Nov. 25, 2014