Tuberous Sclerosis (3)

Question 1

What is it?
➞ Which organs are most commonly affected?

How does it present?

Answer 1

➊ Autosomal-dominant, neurocutaneous, multi-system disorder characterised by cellular hyperplasia, tissue dysplasia, and multiple organ hamartomas
➞ Skin, brain, eye, kidney, and heart

➋ Benign malformations composed of an overgrowth of the cells and tissues that normally occur in the affected area e.g. naevi (birthmarks)

➌ Skin lesions, childhood epilepsy, and developmental delay/behavioural problems