Description

The tuberous sclerosis complex (TOO-bur-us skluh-ROH-sis), also called tuberous sclerosis complex (TSC) is a rare genetic disorder that causes tumors to develop in many parts of the body. These tumors are not cancerous. The non-cancerous tumors, also called benign tumors, are areas of excessive growth of cells and tissues that are not expected. The symptoms vary widely, depending on where the growths develop and how big they get.

Tuberous sclerosis is often encountered for the first time during infancy or childhood. Sometimes the tuberous sclerosis may have mild symptoms, the condition is not diagnosed until adulthood, or not diagnosed at all. Sometimes tuberous sclerosis causes serious disability.

There is No cure for tuberous sclerosis, and the course of the disease and of the bad that occurs cannot be predicted. But treatments are available to control the symptoms.

Symptoms

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

Although the symptoms are different for each person with tuberous sclerosis, which may include:

  • Changes in the skin. Changes in the skin are more common. These include patches of lighter skin, and small areas of thickening, soft, or uneven skin. On the forehead, the skin may have raised, discolored areas. Small soft bumps under or around the nail can occur. The tumors on the face that start in childhood and are seen as the common acne.
  • Seizures. Tumors in the brain may be linked to the attacks. A seizure is often the first symptom of tuberous sclerosis. In young children, a common type of seizure called a spasm child involves stiffness of the legs and the arms and arching the back and the head.
  • Problems in thinking, reasoning, and learning. Tuberous sclerosis can result in delays in the development. Sometimes the boundaries of the ability to think, reason, and learn. Mental health conditions, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), may also occur.
  • Behavior problems. Common behavior problems can include hyperactivity, self-injury or aggression, or issues related to the social and emotional adjustment.
  • Kidney problems. The tumors in the kidneys are common, and more growths may develop with age.
  • Problems of the heart. Growths in the heart, if present, are usually larger at birth and shrink as the child grows.
  • Lung problems. Tumors that develop in the lungs may cause a cough or difficulty breathing, especially with physical activity or exercise. These lung tumors occur more often in women than in men.
  • Eye problems. Tumors may appear as white spots on the light-sensitive tissue at the back of the eye called the retina. These tumors usually do not interfere with the vision.
  • Dental changes. The teeth may have holes on the surface. Small tumors may appear on the gums, inside the cheeks and on the tongue.

When to see a doctor

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

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

Causes

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

Risk factors

Tuberous sclerosis may be the result of:

  • Random cell division error. About two-thirds of the people who have tuberous sclerosis complex has a new change in the TSC1 or TSC2 gene associated with the tuberous sclerosis complex. Most of the people do not have a family history of tuberous sclerosis.
  • A change in the gene hereditary. Around a third of people who have tuberous sclerosis complex to get a change of TSC1 or TSC2 gene from a parent who has the disorder.

If you have tuberous sclerosis, has up to a 50% chance of passing the mutated gene and the disorder to their biological children, which means that the children related to you by blood cannot inherit the gene. So bad that the disorder is present may vary. A father of a family with tuberous sclerosis may have a child who has a milder or a more severe form of the disease.

Complications

Depending on where benign tumors grow and their size, which can cause serious life-threatening complications. Here are some examples:

  • Too much fluid in and around the brain. A type of benign growth of the brain, 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 to protect the brain, causing the buildup of fluid around the brain. This buildup is called hydrocephalus. The symptoms can include the size of the head that is larger than expected, nausea, headaches, and behavioral changes.
  • Complications of the heart. Growths in the heart, usually in infants, it can block the flow of blood or cause problems with the heart's rhythm.
  • The kidney damage. The tumors in the kidney can be large and potentially cause serious — even fatal — problems of the kidney. Tumors in the kidney can cause high blood pressure, or bleeding or lead to kidney failure. Rarely, kidney, tumors may become cancerous.
  • Pulmonary insufficiency. The tumors in the lungs and lung tissue damage and can lead to collapse of the lungs. The growths interfere with the way in which the lungs are able to provide oxygen to the rest of the body.
  • Increased risk of cancerous tumors. Tuberous sclerosis is linked with an increased risk of development of cancerous tumors in the kidneys and the brain.
  • Vision damage. Tumors in the eye can interfere with vision if it blocks too much of the retina, although this is rare.

Diagnosis

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

The health care provider, in general, does a physical exam and talk with you about your symptoms and family history. The provider looks for growths, also called benign tumors, which are commonly caused by tuberous sclerosis. The provider is also likely that the order of several tests, including blood tests and genetic testing to diagnose tuberous sclerosis and to identify related problems.

The seizure of assessment

The diagnostic tests is likely to include an electroencephalogram (eh-lek-tro-en-SEF-uh-lo-gram), sometimes called an EEG. This test records the electrical activity in the brain and can help you determine what is the cause of the seizures.

The brain, the lungs, the kidneys and the liver evaluation

To detect tumors in the body, the tests may include:

  • The magnetic resonance imaging. This test uses a magnetic field and radio waves to create detailed images of the brain or other parts of the body.
  • CTscan. This X-ray technique, creates cross-sectional images, sometimes the images in 3D, in the brain or in other parts of the body.
  • Ultrasound. Also called sonography, this test uses high-frequency sound waves to create images of certain parts of the body, such as the liver, heart and kidneys.

Heart of assessment

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

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

Eye exam

A light and magnifying lens was used to examine the inside of the eye, including the retina.

Dental Exam

This test is to observe the teeth and the inside of the mouth. It is likely that include X-rays of the teeth and jaws.

The development or assessment of mental health

If it is necessary, based on the detection, evaluation with a psychiatrist, psychologist or other mental health professional can help you identify delays in the development, the limits on the child's ability to learn and function, educational, or social, or behavioral problems 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 disease, both parents must consider genetic testing for the tuberous sclerosis complex by themselves. Genetic counseling can help parents understand the risk of tuberous sclerosis to their other children and their future children.

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

Treatment

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

  • Of medicine. Anti-epileptic drugs can be prescribed to control seizures. Other medications may help manage heart rhythm problems, behavior problems, or other symptoms. A drug called everolimus (Afinitor, Zortress) can be used to treat certain types of brain and kidney, and tumors that cannot be removed with surgery. The use of these drugs early in care may help reduce the risk of seizures. The topical ointment form of a drug called sirolimus (Hyftor) can help treat acnelike skin growths.
  • Surgery. If the growth affects the function of a specific organ — such as the kidney, heart, or brain — growth can be removed with surgery. Sometimes the surgery helps to control seizures caused by brain tumors that do not respond to medications. Surgical procedures such as dermabrasion or laser treatment can improve the appearance of skin tumors.
  • Of the therapy. Services early intervention, such as occupational, physical or speech therapy, can be useful. These therapies can help children with tuberous sclerosis who have special needs in these areas. The therapies can improve the ability of children to manage the day to day tasks and activities.
  • Educational and professional services. The early intervention and special needs services can help children with developmental delays and behavior problems to adapt to the classroom. This may help them to reach their maximum potential. When necessary, social, vocational and rehabilitation services may continue throughout life.
  • Mental health and behavior problems. To speak with a mental health professional can help people to accept and to adapt to living with tuberous sclerosis complex. A mental health provider can also help with behavior, social, or emotional problems and suggest resources.

Continuous monitoring

Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up because many of the symptoms can take years to develop. A schedule of regular appointments with your health care professional during the whole life can include tests such as those made during the diagnosis. The search and management of problems early can help prevent complications.

Coping and support

If your child is diagnosed with tuberous sclerosis complex, you and your family may face several challenges and uncertainties. One of the most difficult things about this condition is that it is impossible to predict how your child's health and development will be developed over time.

Your child may have mild problems, and keep up with their peers in terms of academic, social, and physical skills. 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 expect.

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

  • To establish a screening program. Learn all you can about the tuberous sclerosis complex. Work closely with your doctor to establish a course of detection and monitoring of the schedule to the health and development problems. The discovery and treatment of the problems early will reduce the complications.
  • Get help early for any issue with the behavior. Problems with the behavior that sometimes occur with the tuberous sclerosis can be a challenge for parents. Remember that the behavior is not your fault — and it is not the child's fault. Talk with your health care provider if problems occur. Work with the school or a mental health provider to talk about education, and behavioral and mental health services. The sooner you and your child to get help to learn how to handle these problems, it is more likely that your child will do well in the long term.
  • Provide support and love. Your love and support are essential to help your child reach their full potential. When needed, counseling with a mental health professional can help with the adaptation and coping. Services respite care can provide useful support and relief for parents.
  • Connect with other families. You may find it helpful to connect with other families who are living with tuberous sclerosis complex. Ask your child's health care team to recommend a support group in your area, or contact the TSC of the Alliance to find out about the compatibility.

Preparing for your appointment

The symptoms of tuberous sclerosis may be observed at birth. Or you may notice something and raise your concerns with your doctor. After an exam, your child may be referred to one or more specialists for testing and treatment.

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

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

What you can do

Before your appointment, make a list of:

  • Any of the symptoms your child is experiencing, and for how long. If your child has had one or more attacks, taking notes about what happened before, during and after the seizure and how long it lasted. Take note of any marks of concern for you.
  • Your child's key medical information, including other health problems.
  • All the drugs, vitamins, herbs and other supplements your child is taking, and the dose.
  • Information about your family history, including whether anyone in your family has tuberous sclerosis.
  • The 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?
  • There are other possible causes of these symptoms?
  • What kind of evidence does my child need?
  • Should my child see a specialist?

Questions to ask if you are 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 frequently you want to evaluate my child's health and development?
  • Are my other children or family members at increased risk for this condition?
  • Should my child and other family members be tested for genetic changes that can cause this condition?
  • What other types of specialists should my child see?
  • There are clinical trials that could be of help for my child?
  • How can I help my child cope with this disorder?
  • How do 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 the tuberous sclerosis will ask you several questions. Be prepared to respond to them, so that you have time to talk about what is most important to you.

The questions may include:

  • What are the symptoms of your child?
  • When did you first notice these symptoms?
  • Has your child suffered from epileptic seizures?
  • If your child has had a seizure, tell me about them — what happened before, during, and after each seizure and how long it lasted?
  • Symptoms include nausea and vomiting?
  • Has your child had any behavioral problems, such as hyperactivity, aggression or self-injury?
  • Does your child have difficulty paying attention?
  • Your child has been withdrawn from others or to be less socially and emotionally engaged?
  • Does your child's development seems to be delayed in comparison with that of other children of the same age?
  • Have any of your child's blood relatives — such as a father or a brother was diagnosed with tuberous sclerosis complex or you have had the symptoms without being diagnosed?
Symptoms and treatment of Tuberous sclerosis