Tuberous sclerosis

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.

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:

• Skin changes. Skin changes are most common. These include patches of lighter skin and small areas of thickened, smooth or bumpy skin. On the forehead, skin can have raised, discolored areas. Small soft bumps under or around the nails may occur. Growths on the face that start in childhood and look like acne are common.
• Seizures. Growths in the brain may be linked with seizures. A seizure is often the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm involves stiffening of the arms and legs and arching the back and head.
• Problems in thinking, reasoning and learning. Tuberous sclerosis can result in developmental delays. Sometimes it limits the ability to think, reason and learn. Mental health conditions, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.
• Behavior problems. Common behavior problems may include hyperactivity, self-injury or aggression, or issues with social and emotional adjustment.
• Kidney problems. Growths on the kidneys are common, and more growths may develop with age.
• Heart issues. Growths in the heart, if present, are usually largest at birth and shrink as a child gets older.
• Lung problems. Growths that develop in the lungs may cause coughing or trouble breathing, especially with physical activity or exercise. These lung tumors occur more often in females than in males.
• Eye problems. Growths can appear as white patches on the light-sensitive tissue at the back of the eye called the retina. These growths usually don't interfere with vision.
• Dental changes. Teeth may have pits in the surface. Small growths may appear on the gums, inside of the cheeks and on the tongue.

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.

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.

Tuberous sclerosis can be the result of either:

• A random cell division error. About two-thirds of people who have tuberous sclerosis have a new change in either the TSC1 or the TSC2 gene linked with tuberous sclerosis. Most people do not have a family history of tuberous sclerosis.
• A gene change passed down in families. About one-third of people who have tuberous sclerosis get a changed TSC1 or TSC2 gene from a parent who has the disorder.

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.

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

• Too much fluid in and around the brain. One type of noncancerous brain growth, subependymal giant cell astrocytoma, can grow along the lining of the fluid-filled spaces in the brain, called ventricles. The tumor can block the flow of fluid that helps protect the brain, causing fluid to build up around the brain. This buildup is called hydrocephalus. Symptoms can include a head size that is larger than expected, nausea, headaches and behavior changes.
• Heart complications. Growths in the heart, usually in infants, can block blood flow or cause problems with heart rhythm.
• Kidney damage. Growths in the kidney can be large and cause potentially serious — even life-threatening — kidney problems. Growths in the kidney can cause high blood pressure or bleeding or lead to kidney failure. Rarely, kidney growths can become cancerous.
• Lung failure. Growths in the lungs damage the lung tissue and can lead to collapsed lungs. The growths interfere with how well the lungs can provide oxygen to the rest of the body.
• Increased risk of cancerous tumors. Tuberous sclerosis is linked with an increased risk of developing cancerous tumors in the kidneys and brain.
• Vision damage. Growths in the eye can interfere with vision if they block too much of the retina, though this is rare.

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:

• MRI. This test uses a magnetic field and radio waves to create detailed images of the brain or other parts of the body.
• CT scan. This X-ray technique creates cross-sectional images, and sometimes 3D 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 liver, heart and kidneys.

Heart evaluation

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

• Echocardiogram. This test uses sound waves to produce images of the heart.
• Electrocardiogram. Also called an ECG or EKG, this test records the electrical activity of the heart.

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.

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

• Medicine. Anti-seizure medicines may be prescribed to control seizures. Other medicines may help manage heart rhythm problems, behavior problems or other symptoms. A medicine called everolimus (Afinitor, Zortress) may be used to treat certain types of brain and kidney growths that can't be removed with surgery. Using these medicines early in care may help reduce the risk of seizures. The topical ointment form of a medicine called sirolimus (Hyftor) may help treat acnelike skin growths.
• Surgery. If a growth affects the function of a specific organ — such as the kidney, brain or heart — the growth may be removed with surgery. Sometimes surgery helps control seizures caused by brain growths that don't respond to medicine. Surgical procedures such as dermabrasion or laser treatment may improve the appearance of skin growths.
• Therapy. Early intervention services, such as occupational, physical or speech therapy, may be helpful. These therapies can help children with tuberous sclerosis who have special needs in these areas. The therapies can improve children's ability to manage daily tasks and activities.
• Educational and vocational services. Early intervention and special needs services can help children with developmental delays and behavior issues adapt to the classroom. This can help them meet their full potential. When needed, social, vocational and rehabilitation services may continue throughout life.
• Mental health and behavior issues. Talking with a mental health provider may help people accept and adjust to living with tuberous sclerosis. A mental health provider also can help with behavior, social or emotional issues and suggest resources.

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.

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:

• Establish a screening schedule. Learn all you can about tuberous sclerosis. Work closely with your health care provider to establish an ongoing screening and monitoring schedule for health and developmental problems. Discovering and treating problems early will reduce complications.
• Get help early for any problems with behavior. Issues with behavior that sometimes occur with tuberous sclerosis can be challenging for parents. Remember that the behavior is not your fault — and it's not your child's fault. Talk to your child's health care provider if problems occur. Work with the school or a mental health provider to discuss education and behavioral and mental health services. The earlier you and your child get help learning how to manage these problems, the more likely your child will do well in the long term.
• Provide love and support. Your love and support are essential to helping your child reach full potential. When needed, counseling with a mental health provider may help with adjustment and coping. Respite care services may provide helpful relief and support for parents.
• Connect with other families. You may find it helpful to connect with other families who are living with tuberous sclerosis. Ask your child's health care team to recommend a support group in your area, or contact the TSC Alliance to find out about support.

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:

• Any symptoms your child is 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. Note any birthmarks of concern to you.
• Your child's key medical information, including other health problems.
• All medicines, vitamins, herbs and other supplements your child is taking, and the doses.
• Information about your family history, including whether anyone else in your family has tuberous sclerosis.
• Questions you want to ask your health care provider.

Questions to ask your child's health care provider may 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 suggest 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 my child and other family members be tested for the genetic changes that can cause this condition?
• What other types of specialists should my child see?
• Are there any clinical trials that might be helpful for my child?
• How can I help my child cope with this disorder?
• How can I find other families who are living with tuberous sclerosis?

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:

• What are your child's symptoms?
• When did you first notice these symptoms?
• Has your child had any seizures?
• If your child has had seizures, tell me about them — what happened before, during and after each seizure and how long did it last?
• Have symptoms included nausea and vomiting?
• Has your child had any behavior problems, such as hyperactivity, aggression or self-injury?
• Does your child have difficulty paying attention?
• Has your child withdrawn from others or become less socially and emotionally engaged?
• Does your child's development seem delayed compared with that of other children who are the same age?
• Have any of your child's blood relatives — such as a parent or sibling — been diagnosed with tuberous sclerosis or had symptoms without ever being diagnosed?