Tuberous sclerosis (patient information)
Tuberous sclerosis On the Web
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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.
What are the symptoms of Tuberous sclerosis ?
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 (adenoma sebaceum)
- Raised patches of skin with an orange-peel texture (shagreen spots), often on the back
Brain symptoms include:
- Pitted tooth enamel
- Rough growths under or around the fingernails and toenails
- Rubbery noncancerous tumors on or around the tongue
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.
What causes Tuberous sclerosis ?
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.
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.
Signs may include:
- Abnormal heart rhythm (arrhythmia)
- Calcium deposits in the brain
- Noncancerous "tubers" in the brain
- Rubbery growths on the tongue or gums
- Tumor-like growth (hamartoma) on the retina, pale patches in the eye
- Tumors of the brain or kidneys
Tests may include:
- CT scan of the head
- MRI of the head
- Ultrasound of the kidney
- Ultraviolet light examination of the skin
- 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.
When to Contact a Medical Professional ?
Call 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
There is no specific treatment for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.
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.
Prevention of Tuberous sclerosis
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.
What to expect (Outlook/Prognosis)?
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.
- Brain tumors (astrocytoma)
- Heart tumors (rhabdomyoma)
- Severe mental retardation
- Uncontrollable seizures
- 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