Amelogenesis imperfecta in a family

[摘要] Introduction:amelogenesis imperfecta consists of a group of hereditary disorders that affectthe development of the dental enamel in such a way that the clinical appearanceof all or almost all primary and permanent teeth is compromised. Objective: report the clinical characteristics and conditions of thedentition of three individuals from the same family with a presumptive diagnosisof amelogenesis imperfecta. Case presentation: intraoral examination was performed of three first-degreerelatives (mother and two children) with structurally altered tooth enamel.Based on their clinical dental characteristics and the results of the Witkopmethod, the individuals were presumptively diagnosed with hypomaturation amelogenesisimperfecta type II (mother), characterized by enamel hypomaturation and fragmentationby wear on the incisal edges; hypoplastic amelogenesis imperfecta type I (elderson), with large areas of opaque exposed dentin and generalized brown spots;and hypomaturation amelogenesis imperfecta type II (younger son), with a predominanceof lesions in the shape of snowflakes or cotton wads. Conclusions: clinical diagnosis of amelogenesis imperfecta based on phenotypicmethods is imprecise, since it is not possible to establish the origin of themacrostructural alterations of the enamel. However, according to the descriptionof the three cases, quantitative and qualitative damage to the enamel makesit possible to establish a presumptive clinical diagnosis which will guide theimplementation of a dental treatment aimed at resolving the aesthetic commitmentand preventing involvement of the dentine-pulp complex. In this case presentation,the phenotypic manifestation of the disease passed from the mother to both children,and hypomaturation amelogenesis imperfecta was dominant in the younger son.

[学科分类] 基础医学

[关键词] amelogenesis imperfecta;tooth enamel;amelogenesis.