tuberous sclerosis

English

A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern

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.

Noun

tuberous sclerosis (uncountable)

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.

Synonyms

• Bourneville disease
• epiloia
• tuberous sclerosis complex (TSC)
• (for the cortical manifestations) Bourneville disease, Bourneville's disease, Bourneville–Pringle disease