tuberous sclerosis

English dictionary entry

Meanings

noun
  1. A rare disease that causes benign tumors to grow in the human brain, kidneys, heart, liver, eyes, lungs and skin, caused by a mutation in the genes for the tumor growth suppressor proteins hamartin and tuberin.

Word forms

tuberous sclerosis

Etymology

Name composed of the Latin tuber (swelling) and the Greek skleros (hard), referring to the pathological finding of thick, firm, and pale gyri, called "tubers", in the brains of patients post mortem, first described by Désiré-Magloire Bourneville in 1880.

Synonyms

Bourneville disease epiloia tuberous sclerosis complex Bourneville's disease Bourneville–Pringle disease
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