Tuberous sclerosis (patient information)
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Tuberous sclerosis |
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Tuberous sclerosis On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Overview
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:
- Developmental delays
- Mental retardation
- Seizures
Other symptoms:
- 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.
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.
Diagnosis
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