epiloia


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tu·ber·ous scle·ro·sis

[MIM*191100]
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.
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epiloia

A 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.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

tu·ber·ous scle·ro·sis

(tūbĕr-ŭs skler-ōsis) [MIM*191100]
Phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face.
Synonym(s): Bourneville disease, epiloia.
Medical Dictionary for the Dental Professions © Farlex 2012