amelogenesis imperfecta type 1C

Amelogenesis imperfecta type 1C (AI1C) is a genetic condition characterized by enamel hypoplasia, which results in enamel that is thin and poorly mineralized. This condition is caused by variants in the ENAM gene, which is essential for the proper formation of enamel. AI1C follows an autosomal recessive inheritance pattern, meaning that both copies of the gene must be altered for the condition to manifest. Clinical features include significant enamel hypomineralization, which can lead to increased susceptibility to cavities and sensitivity. The prevalence of this specific subtype is not well characterized, indicating a need for further research and documentation.

The primary clinical features of amelogenesis imperfecta type 1C include enamel hypoplasia and amelogenesis imperfecta, both of which are always present in affected individuals. This condition primarily affects dental health, leading to issues such as increased dental caries and sensitivity due to the lack of protective enamel. The hypoplastic enamel can also result in aesthetic concerns, as the teeth may appear discolored or irregularly shaped. These features underscore the importance of dental care and monitoring for individuals with this condition.

Documentation on amelogenesis imperfecta type 1C is limited due to its rarity and the recent identification of the genetic basis associated with the ENAM gene. Conditions like AI1C affect a small number of individuals, which can hinder comprehensive clinical studies and the accumulation of detailed patient data. As awareness and understanding of this condition grow, it is hoped that more systematic research will emerge to better characterize the clinical features and management strategies.