Tuberous sclerosis

Tuberous sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, heart, and lungs. The condition can also cause tumors to grow in the brain. These tumors have a tuber or root-shaped appearance.

Causes

Tuberous sclerosis is genetic condition. Changes (mutations) in one of two genes, TSC1 and TSC2, are responsible for most cases.

Only one parent needs to pass on the mutation for the child to get the disease. However, two-thirds of cases are due to new mutations. In most cases, there is no family history of tuberous sclerosis.

This condition is one of a group of diseases called neurocutaneous syndromes. Both the skin and central nervous system (brain and spinal cord) are involved.

Central nervous system

The central nervous system is composed of the brain and spinal cord. Your brain and spinal cord serve as the main "processing center" for your entir...

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There are no known risk factors, other than having a parent with tuberous sclerosis. In that case, each child has a 50% chance of inheriting the disease.

Symptoms

Skin symptoms include:

• Areas of the skin that are white (due to decreased pigment) and have either an ash leaf or confetti appearance
• Red patches on the face containing many blood vessels (facial angiofibromas)
• Raised patches of skin with an orange-peel texture (shagreen spots), often on the back

Brain symptoms include:

• Autism spectrum disorders

  Autism

  Autism spectrum disorder (ASD) is a developmental disorder. It often appears in the first 2 to 3 years of life. ASD affects the brain's ability to ...

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• Developmental delays
• Intellectual disability

  Intellectual disability

  Intellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...

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• Seizures

  Seizures

  A seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...

  

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Other symptoms include:

• Pitted tooth enamel.
• Rough growths under or around the fingernails and toenails.
• Rubbery noncancerous tumors on or around the tongue.
• Lung disease known as LAM (lymphangioleiomyomatosis). This is more common in women. In many cases, there are no symptoms. In other people, this can lead to shortness of breath, coughing blood, and lung collapse.
  

The symptoms vary from person to person. Some people have normal intelligence and no seizures. Others have intellectual disabilities or difficult-to-control seizures.

Exams and Tests

Signs may include:

• Abnormal heart rhythm (arrhythmia)

  Arrhythmia

  An arrhythmia is a disorder of the heart rate (pulse) or heart rhythm. The heart can beat too fast (tachycardia), too slow (bradycardia), or irregul...

  

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• Calcium deposits in the brain
• Noncancerous tumors in the brain
• Rubbery growths on the tongue or gums
• Tumor-like growth (hamartoma) on the retina, pale patches in the eye
• Tumors in the kidneys

  Tumors

  A tumor is an abnormal growth of body tissue. Tumors can be cancerous (malignant) or noncancerous (benign).

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Tests may include:

• CT scan of the head

  CT scan of the head

  A head computed tomography (CT) scan uses many x-rays to create pictures of the head, including the skull, brain, eye sockets, and sinuses.

  

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• Chest CT

  Chest CT

  A chest CT (computed tomography) scan is an imaging method that uses x-rays to create cross-sectional pictures of the chest and upper abdomen....

  

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• Echocardiogram (ultrasound of the heart)

  Echocardiogram

  An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...

  

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• MRI of the head

  MRI of the head

  A head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...

  

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• Ultrasound of the kidney

  Ultrasound of the kidney

  Abdominal ultrasound is a type of imaging test. It is used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and...

  

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• Ultraviolet light examination of the skin

DNA testing for the two genes that can cause this disease (TSC1 or TSC2) is available.

Regular ultrasound checks of the kidneys are important to make sure there is no tumor growth.

Treatment

There is no known cure for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.

• Depending on the severity of the intellectual disability, the child may need special education.
• Some seizures are controlled with medicine (vigabatrin is first line for infantile spasms). Other children may need surgery.
• Small growths on the face (facial angiofibromas) may be removed by laser treatment. These growths tend to come back, and repeat treatments will be needed.
• Cardiac rhabdomyomas commonly disappear after puberty. Surgery to remove them is usually not needed.
• Brain tumors can be treated with medicines called mTOR inhibitors (sirolimus, everolimus).
• Kidney tumors are treated with surgery, or by reducing the blood supply using special x-ray techniques. mTOR inhibitors are being studied as another treatment for kidney tumors.

Support Groups

For additional information and resources, contact the Tuberous Sclerosis Alliance at www.tsalliance.org.

Outlook (Prognosis)

Children with mild tuberous sclerosis most often do well. However, children with severe intellectual disability or uncontrollable seizures often need lifelong assistance.

Sometimes when a child is born with severe tuberous sclerosis, one of the parents is found to have had a mild case of tuberous sclerosis that was not diagnosed.

The tumors in this disease tend to be noncancerous (benign). However, some tumors (such as kidney or brain tumors) can become cancerous.

Possible Complications

Complications may include:

• Brain tumors (astrocytoma)

  Astrocytoma

  A brain tumor is a group (mass) of abnormal cells that grow in the brain. This article focuses on primary brain tumors in children.

  

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• Heart tumors (rhabdomyoma)
• Severe intellectual disability
• Uncontrollable seizures

When to Contact a Medical Professional

Contact your health care provider if:

• Either side of your family has a history of tuberous sclerosis
• You notice symptoms of tuberous sclerosis in your child

Contact a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.

Prevention

Genetic counseling is recommended for couples who have a family history of tuberous sclerosis and who want to have children.

Prenatal diagnosis is available for families with a known gene mutation or history of this condition. However, tuberous sclerosis often appears as a new DNA mutation. These cases are not preventable.

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