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phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face; the cerebral and retinal lesions are glial nodules; other skin lesions are hypopigmented macules, shagreen patches, and periungual fibromas; autosomal dominant inheritance with variable expression, caused by mutation in either the tuberous sclerosis gene (TSC1) on chromosome 9q or TSC2 on 16p.
See tuberous sclerosis.
epiloiaA rare genetic congenital disorder, also called tuberous sclerosis or BOURNEVILLE DISEASE, in which the brain, the skin and other organs become studded with knobbly tumours derived from an abnormal overgrowth of primitive cell tissue. Epiloia occurs either as a result of a dominant gene or as a mutation, and affects about 1 baby in 20 000.
diseasepathogenic entity characterized by an identifiable aetiological agent, group of signs and symptoms and/or consistent anatomical alterations; see syndrome
Bourneville's disease; tuberose sclerosis autosomal-recessive disease characterized by cutaneous lesions (e.g. Koenen's tumours of nail fold, facial adenoma sebaceum, hyperpigmented shagreen patches, hypopigmented ash-leaf macules), renal tumours, epilepsy and learning difficulties