Amelogenesis imperfecta can also be 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.

Genes control how teeth develop. And sometimes teeth may not form properly, making enamel less resistant to bacteria. Genes can also influence whether teeth will be crooked.

Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are inherited in an X-linked pattern and are caused by mutations in the EDA gene. 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 .

Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes . These genes provide instructions for making proteins that are essential for normal tooth development.

Subdivisions of Amelogenesis Imperfecta

• hypoplastic (type I)
• hypomaturation (type II)
• hypocalcified (type III)
• hypomaturation/hypoplasia/taurodontism (type IV)

Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of conditions that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues.

Enamel development (amelogenesis) can be broken down into four defined stages: presecretory, secretory, transition and maturation. The stages are defined by the morphology and function of the ameloblasts (Figure 1).

How is amelogenesis imperfecta treated?

1. Bonding. In tooth bonding, high-density, modern plastics called composite resins or porcelain veneers are attached to teeth to fill in gaps.
2. Full crown restoration.
3. Orthodontic treatment.
4. Good dental hygiene.
5. Low-sugar diet.
6. Dentures or overlay dentures.

Amelogenesis imperfecta (AI) is an inherited disorder that is associated with mutations in five genes (AMEL; ENAM; MMP20; KLK4 and FAM83H) with a wide range of clinical presentations (phenotypes). It affects the structure and appearance of enamel of all teeth, both in the primary and secondary dentition.

Enamel hypoplasia is a developmental defect that results in inadequate enamel. It can affect both baby teeth and permanent teeth. In severe cases, no enamel forms on the teeth, and in standard cases, the tooth enamel is thin and weak.

An enamel defect in the permanent teeth caused by periapical inflammatory disease in the overlying primary tooth is referred to as Turner’s tooth (also known as Turner’s hypoplasia).

Enamel Hypoplasia can be related either to hereditary causes, affecting all the teeth on both dentitions or acquired ones, involving one or more teeth (Figure 3). When Hypoplasia is related to a hereditary cause it can be also called Amelogenesis Imperfecta.

Defective enamel development can be the result of an inherited condition called amelogenesis imperfecta, or congenital enamel hypoplasia, which is estimated to affect about 1 in 14,000 people in the United States.

The hereditary factors that lead to enamel hypoplasia in children consist primarily of relatively rare genetic disorders, such as amelogenesis imperfecta and Ellis van-Creveld syndrome. Current research suggests that environmental risk factors for enamel hypoplasia in children include the following: Premature birth.

Tooth enamel is made up of minerals like calcium phosphate and hydroxy apatite. A lesser concentration of these minerals on some areas of the tooth leads to chalky spots on the dental crown. This condition is known as enamel hypocalcification.

Hypocalcification occurs when your tooth enamel contains an insufficient amount of calcium. This insufficiency causes your enamel to be thin and weak. Hypocalcification also gives your teeth an opaque or chalky appearance and can lead to white, yellow, or brown discoloration.

Some areas in enamel are hypocalcified: enamel spindles, enamel tufts, and enamel lamellae. Causal factors may occur locally, affecting only a single tooth, or they may act systemically, affecting all teeth in which enamel is being formed.

Last week we discussed how prolonged contact with acidic bacterial plaque can lead to decalcification, or demineralization, of teeth. Decalcification is one of the reasons for white spots (lesions) on teeth. Fortunately, decalcification can be reversed.

[2] The surface enamel is composed of enamel prisms or rods, rod sheaths, and cementing interprismatic substance. The enamel prisms or rods are the basic structural component of enamel. They originate at the dentino-enamel junction and extend through the thickness of the enamel surface.