Amelogenesis imperfecta: a diagnostic and pathological review with case illustration

Amelogenesis mperfecta is an inherited disorder of enamel development, which results n 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 mplicated 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 essentia component of the treatment process includes patient counselling and education. Patient management requires a dedicated multi-disciplinary 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 panning and dental management.