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Medical Health Encyclopedia
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Tuberous sclerosis, angiofibromas  - face
Tuberous sclerosis, angiofibromas - face
Tuberous sclerosis, hypopigmented macule
Tuberous sclerosis, hypopigmented macule


Tuberous sclerosis

Alternative Names:
Adenoma sebaceum

Symptoms:
  • Ash leaf spots of skin, and less often, cafe-au-lait spots
  • Shagreen spots of the skin, if present, likely on the back
  • Red, highly vascular lumps on the face (adenoma sebaceum)
  • Mental retardation
  • Seizures
  • Rough growths under or around fingernails and toenails
  • Pitted dental enamel
  • Kidney tumors


Signs and tests:
  • Examination of the eyes may show retinal abnormalities, pale patches, mulberry tumor or phakoma or astrocytoma (tumor).
  • There may be some indications of heart abnormalities including abnormal heart rhythm (electorcardiogram) or tumor (rhabdomyoma) on ultrasound.
  • An MRI of the head demonstrates tumors or benign "tubers" in the brain.
  • A CAT scan of the head may reveal calcium deposits in the brain.
  • The mouth may show rubbery growths in tongue or gingiva.
  • Ultrasound of kidney may show cysts, fatty benign tumors or serious tumors.
  • Ultraviolet light examination of the skin may show ash leaf spots not visible in ordinary light.
  • There may be a family history of the condition. Genetic testing for either of two genes that can cause this disease (TSC1 or 2) may be available.



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