Tuberous Sclerosis, or epiloia: a rare inherited disease transmitted as an autosomal dominant trait. EPILEPSY in childhood is often the first manifestation (see INFANTILE SPASMS), although ovoid hypopigmented macules (‘ash leaf patches’) in the skin may be detected in infants without symptoms. Later an ACNE-like eruption of the face (adenoma sebaceum), fibrous outgrowths around the nails and fibrous plaques on the lower back (shagreen patch) can all occur. Half of those affected have learning difficulties 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.