Also called epiloia: a rare inherited disease transmitted as an autosomal dominant trait. EPILEPSY in childhood is often the ?rst manifestation (see INFANTILE SPASMS), although ovoid hypopigmented macules (‘ash leaf patches’) in the skin may be detected in infancy. Later an ACNE-like eruption of the face (adenoma sebaceum), ?brous outgrowths around the nails and ?brous plaques on the lower back (shagreen patch) can all occur. Half of those affected have learning diffculties and behaviour problems, and autistic symptoms may occur (see AUTISM).
Characteristic white streaks appear on the optic fundi (see EYE). Molecular genetic testing can identify up to 90 per cent of individuals with a tuberin gene. Genetic counselling of families is helpful. Relatives of those with this condition can obtain help and guidance from the Tuberous Sclerosis Association of Great Britain.... tuberous sclerosis
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