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Tuberous Sclerosis

This is an autosomal-dominant, neurocutaneous, multi-system disorder characterised by cellular hyperplasia, tissue dysplasia, and multiple organ hamartomas. It most commonly affects the skin, brain, eye, kidney, and heart.


It's presents as benign malformations composed of an overgrowth of the cells and tissues that normally occur in the affected area. An example of this is naevi (birthmarks).


It can also present with:

  • Skin lesions

  • Childhood epilepsy

  • Developmental delay/behavioural problems

“Facial angiofibromas of tuberous sclerosis” © Mustaqim K, Mohd Ghazi A, Harun Nor Rashid S CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/)

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