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Tuberous sclerosis

  • Alternative Names

    Adenoma sebaceum


    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 (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.


    Signs and tests

    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.