AMELOGENESIS IMPERFECT

AMELOGENESIS IMPERFECT

Amelogenesis imperfect presents with abnormal formation of the enamel or external layer of teeth. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel: ameloblastin, enamelin, tuftelin and amelogenin.
People afflicted with amelogenesis imperfect have teeth with abnormal color: yellow, brown or grey. The teeth have a higher risk for dental cavities and are hypersensitive to temperature changes. This disorder can afflict any number of teeth.
Genetics
Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
Amelogenesis imperfect is also inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered.
About 5% of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with an X-linked form of this condition experience more severe dental abnormalities than affected females.
Other cases of this condition result from new gene mutations and occur in people with no history of the disorder in their family.
Treatment
Crowns are sometimes being used to compensate for the soft enamel. Usually stainless steel crowns are used in children which may be replaced by porcelain once they reach adulthood. In the worst case scenario, the teeth may have to be extracted and implants or dentures are required.

By. Dr. Monica Muñoz, Dentist in Mexico