A Amelogénese Imperfeita – Uma Revisão da Literatura

Abstract

Amelogenesis imperfecta constitutes an abnormality of enamel development, genomic in origin. The prevalence is 1:14000 and the enamel may be hypoplastic, hypomineralised or hypoplastic - hypomineralised with taurodontism. This condition may show autosomal dominant, autosomal recessive or sex-linked (dominant or recessive) inheritance patterns. Several mutations have been identified in amelogenin, enamelin, kallikrein-4 and enamelysin genes, known to be involved in enamel formation. Mutations of the amelogenin gene cause X-linked amelogenesis imperfecta. The enamelin gene is implicated in the pathogenesis of the dominant forms of AI, while the recessive forms may result from mutations in the kallikrein-4 and enamelysin genes. Amelogenesis imperfecta exists in isolation forms or associated with other abnormalities, in syndromes, and frequently presents problems of function and socialization, but may be managed by early intervention. This article pretends not only developing a deep knowledge about amelogenesis imperfecta, but mostly, with it, alert all the dental health professionals for the gravity of this malformation, associated to serious esthetics and psychiatric problems.