Amelogenesis imperfecta
dental enamel hypoplasia characterized by abnormal enamel formation
Amelogenesis imperfecta (AI) is a group of congenital disorders, involving the abnormal formation of tooth enamel, the external layer of the crown of teeth. Amelogenesis imperfecta can be unrelated to any systemic or generalized conditions or can be part of a syndromic condition.
Amelogenesis is the process of enamel formation. Healthy, fully formed enamel is approximately 96% mineral by weight and forms over months to years in humans, depending upon the tooth in question.
Amelogenesis imperfecta typically occurs as a result of mutations in the genes that encode proteins directly involved in tooth enamel formation, although there are some rare exceptions. Knowledge of the specific functions of some of the proteins encoded by these genes is incomplete. In short, pathogenic variants in these genes prevent amelogenesis occurring as it should, leading to amelogenesis imperfecta.
People with amelogenesis imperfecta may have teeth with thin or even absent enamel or enamel which is soft or brittle. Their remaining tooth enamel or tooth surface may be of abnormal color, for example yellow, brown or opaque white, and may be pitted. Affected teeth have a higher risk for dental cavities and are likely to be hypersensitive to temperature changes.
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This entry incorporates text from “Amelogenesis imperfecta” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.