Tuberous sclerosis is an autosomal dominant disorder, very
variable in its manifestation, that can cause epilepsy and severe
retardation in affected children. Hamartomas of the brain,
heart, kidney, retina and skin may also occur, and their
presence indicates the carrier state in otherwise healthy family
members. Sarcomatous malignant change is possible but
uncommon. Tuberous sclerosis can be due to mutations in
genes on chromosomes 9 and 16 (TSC1 and TSC2).
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