It is a disease of skin and organ hamartoma.
- TSC1: Hamartin
- TSC2: Tuberin.
- Ash leaf macule:
- Hypopigmented macule
- First sign, present since birth.
- Adenoma sebaceum/ Angiofibroma:
- Site: Face
- Shagreen patch:
- Plaque on lumbosacral region.
- Periungual fibroma/ Koenen’s tumor:
- Confetti macules:
- EPI: Epilepsy/ Infantile spasm
- LOI: Low IQ
- A: Angiofibroma.
- DOC when infantile spasm is associated with Tuberous sclerosis: Vigabatrin.
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