Developmental Defects of Enamel

• Published in: Monographs in oral science Vol. 32; p. 10
• Main Authors: Martins, Daiana da Silva, Ionta, Franciny Querobim, Pompermaier Garlet, Gustavo, Lima, Rafael Rodrigues, Neves, Aline de Almeida, Rios, Daniela, Lussi, Adrian
• Format: Journal Article
• Language: English
• Published: Switzerland 2024
• Subjects: Amelogenesis - genetics; Amelogenesis Imperfecta - diagnosis; Amelogenesis Imperfecta - genetics; Amelogenesis Imperfecta - pathology; Dental Enamel - abnormalities; Dental Enamel - pathology; Dental Enamel Hypoplasia - diagnosis; Dental Enamel Hypoplasia - genetics; Developmental Defects of Enamel; Fluorosis, Dental - etiology; Fluorosis, Dental - pathology; Humans
• ISSN: 1662-3843
• DOI: 10.1159/000538850

Amelogenesis, the intricate process governing enamel formation, is susceptible to a range of genetic, systemic, and environmental influences, resulting in distinct developmental defects of enamel (DDE), such as molar incisor hypomineralisation (MIH), enamel hypoplasia, dental fluorosis, and amelogenesis imperfecta (AI). This chapter aims to provide a comprehensive overview of amelogenesis and DDE, establishing correlations between histopathological findings and clinical manifestations. MIH, a qualitative enamel defect, occurs during the mineralisation and maturation phases, affecting first permanent molars and eventually incisors. Diagnostic challenges in MIH arise from the disorder's unique features, including variable tooth involvement and severity, influenced by a complex interplay of genetic, systemic, and environmental factors. Enamel hypoplasia, a quantitative defect, manifests in any tooth during enamel matrix secretion. Etiological factors include local, systemic, environmental, and genetic influences, with variable enamel matrix abnormalities depending on the stage of amelogenesis when aggression occurred. Dental fluorosis, a toxicological concern from chronic and excessive fluoride exposure, affects ameloblasts and compromises crystal growth of the homologous teeth during enamel development. Lastly, AI, an inherited condition, encompasses diverse phenotypes in enamel development. AI phenotypes, whether hypoplastic or hypomineralised, entail mutations in genes, such as AMELX, ENAM, MMP20, KLK4, WDR72, FAM83H, C4ORF26, amelotin, GPR68, and ACPT. Diagnosing AI involves considering family history and clinical observation. In conclusion, navigating the intricacies of amelogenesis, from MIH to AI, underscores the critical importance of accurate diagnosis for proper clinical management of DDE.