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Tuberous Sclerosis

Definition

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.

Symptoms

Skin symptoms include:

  • Café-au-lait spots
  • 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
  • White areas of skin that look like an ash leaf (ash leaf spots)

Brain symptoms include:

Other symptoms:

  • Heart tumors (rhabdomyoma)
  • Kidney tumors
  • Pitted dental enamel
  • Rough growths under or around the fingernails and toenails
  • Rubbery non-cancerous 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 severe retardation, serious tumors, or difficult-to-control seizures.

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