Amelogenesis imperfecta : a diagnostic and pathological review with case illustration

Abstract

Amelogenesis imperfecta is an inherited disorder of enamel development, which results in morphological defects of both the primary and secondary dentition, usually in the absence of systemic involvement. Mutational defects involving the genes that encode for enamel matrix proteins and proteinases are implicated in this disorder. The phenotypic expression is variable, spanning a spectrum from barely discernible changes to severe aesthetic and functional enamel defects. The specific type and location of the genetic mutation, as well as the mode of inheritance, determine the clinical presentation. Clinical recognition and early therapeutic intervention are required for the most successful outcome. An essential component of the treatment process includes patient counselling and education. Patient management requires a dedicated multidisciplinary approach. The disorder is reviewed here with emphasis on the clinical significance for the oral healthcare worker. In addition, a case is presented in order to provide an example of treatment planning and dental management.