Tuberous Sclerosis

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It is a disease of skin and organ hamartoma.

Genes involved:

  1. TSC1: Hamartin
  2. TSC2: Tuberin.

Skin manifestations:

  1. Ash leaf macule:
    • Hypopigmented macule
    • First sign, present since birth.
  2. Adenoma sebaceum/ Angiofibroma:
    • Site: Face
  3. Shagreen patch:
    • Plaque on lumbosacral region.
  4. Periungual fibroma/ Koenen’s tumor:
  5. Confetti macules:

Multisystem manifestations:

Clinical features:

Mnemonic: EPILOIA

  • EPI: Epilepsy/ Infantile spasm
  • LOI: Low IQ
  • A: Angiofibroma.

Treatment:

  • Supportive
  • DOC when infantile spasm is associated with Tuberous sclerosis: Vigabatrin.

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1 thought on “Tuberous Sclerosis”

  1. thank you very much for publishing such clear pictures manifesting signs of such disease as epiloia. thru this we have a vivid idea on how this genetic disease is observed in an individual.

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