Amelogenesis imperfecta

Amelogenesis imperfecta is a group of congenital disorders marked by abnormal formation of tooth enamel, the hard outer layer of the tooth crown, occurring either on its own or as part of a wider syndrome. Healthy mature enamel is about 96 percent mineral by weight and normally forms over months to years; in this disorder, mutations in the genes that encode enamel-formation proteins most often disrupt that process. Affected teeth may have enamel that is too thin, absent, soft or brittle, with yellow, brown or opaque white discoloration and pitting, along with heightened cavity risk, temperature sensitivity, rapid wear after eruption and excessive plaque buildup because brushing is painful. Inheritance follows autosomal recessive, autosomal dominant or X-linked patterns, and in some syndromic forms the kidneys are also affected. The condition was distinguished from dentinogenesis imperfecta in 1938. Management is multidisciplinary dental care ranging from sealants to restorations and crowns, aimed at function and appearance.