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[Bourneville's tuberous sclerosis]
C Stefan1, B Cârstocea, V Mercaş
1Spitalul Militar Central Bucureşti.
Abstract:
Phacomatoses represent a group of congenital and familial diseases, characterized by neuromesodermal, neuroectodermal or atypical disorders. The primary lesion sites in the connective tissue, affecting the organogenesis. Bourneville's disease or the tuberous sclerosis, is a rare congenital disease, with autosomal dominant inheritance with irregular penetration. The essential pathology is the appearance of multiple tumors with various sites: brain, heart, kidneys, skin, eye ball.