Tuberous sclerosis is a group of two genetic disorders that affect the skin, brain/nervous system, kidneys, and heart, and cause tumors to grow. The diseases are named after a tuber- or root-shaped growth in the brain.
Tuberous sclerosis is inherited. Changes (mutations) in two genes, TSC1 and TSC2, are responsible for most cases of the condition.
Only one parent needs to pass on the mutation for the child to get the disease. However, most cases are due to new mutations, so there usually 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.
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.
Skin symptoms include:
Brain symptoms include:
The symptoms of tuberous sclerosis vary from person to person. Some people have normal intelligence and no seizures. Others have intellectual disabilities or difficult-to-control seizures.
Signs may include:
Tests may include:
DNA testing for either of the two genes that can cause this disease (TSC1 or TSC2) is available.
Regular ultrasound checks of the kidneys are an important screening tool to make sure there is no tumor growth.
There is no specific treatment for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.
Medications are needed to control seizures, which is often difficult. Depending on the severity of the mental retardation, the child may need special education.
Small growths (adenoma sebaceum) on the face may be removed by laser treatment. These growths tend to come back, and repeat treatments will be necessary.
Rhabdomyomas commonly disappear after puberty, so surgery is usually not necessary.
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Children with mild tuberous sclerosis usually do well. However, children with severe retardation or uncontrollable seizures usually do poorly. Occasionally when a severely affected child is born, the parents are examined, and one of them 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.
Call your health care provider if:
Call a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.
Genetic counseling is recommended for prospective parents with a family history of tuberous sclerosis. Prenatal diagnosis is available for families with a known DNA mutation. However, tuberous sclerosis often appears as a new mutation, and these cases are not preventable.
Haslam RHA. Neurocutaneous syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 596.
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