Amelogenesis imperfecta is a group of rare genetic conditions in which the outer layer of the teeth or enamel fails to develop properly.

Individuals with amelogenesis imperfecta typically have small, yellow, or brown teeth that are prone to damage and breakage.

Amelogenesis imperfecta stems from mutations in the genes, most commonly AMELX, ENAM, and MMP20. These genes are responsible for producing the proteins necessary for the typical formation of enamel.

Enamel is the hard, mineral-rich material that forms the protective outer layer of your teeth. A mutation in any one of these genes can prevent it from making the correct protein, leading to enamel that is thin or soft.

The mutated genes can pass from parents to their children, or the mutation can develop in people with no family history of the disease.

A person can inherit these genes via various gene mutations, such as:

  • autosomal dominant
  • autosomal recessive
  • X-linked
  • sporadic

The main symptom of amelogenesis imperfecta is defective enamel. This occurs in both baby teeth and adult permanent teeth. In general, symptoms include:

  • smaller-than-normal teeth
  • yellow or brown discoloration of the teeth
  • teeth that are prone to damage and breakage
  • sensitive teeth
  • open bite malocclusion, a misalignment in which the upper and lower teeth don’t make contact with each other with a closed mouth

The exact characteristics of the enamel depend on the type of amelogenesis imperfecta:

Type I: Hypoplastic

In this form, there is a defect in the amount of enamel created. In other words, the enamel is hard, but there isn’t enough of it. The teeth are small and may be white, yellow, or brown, and the enamel is quite thin. The teeth also have pits and grooves.

This is the most common type of amelogenesis imperfecta.

Type II: Hypomaturation

Hypomaturation refers to a defect in the final growth and maturation of enamel. The teeth are creamy, opaque, or yellow or brown with sensitivity. The enamel has a typical thickness, but it’s too soft, so the teeth appear mottled and may wear away and break.

Type III: Hypocalcified

In this type, a defect occurs in the initial stages of enamel formation. The enamel may have a typical thickness, but it’s too soft. The teeth may be white, yellow, or brown, and the enamel may be rough. The teeth may also be extremely sensitive to hot and cold.

Amelogenesis imperfecta vs. dentinogenesis imperfecta

Amelogenesis imperfecta and dentinogenesis imperfecta are both genetic disorders of tooth development.

Dentinogenesis imperfecta affects a different part of the tooth, the dentin. This is a bone-like substance that makes up the middle layer of your teeth. Dentinogenesis imperfecta stems from mutations in the DSPP gene. People with dentinogenesis imperfecta have teeth that are translucent and range in color from blue-grey to yellow-brown.

In both conditions, the teeth are weak and prone to breakage.

Amelogenesis imperfecta is typically diagnosed by a dentist. They will take a family history and perform an oral exam to assess the enamel. Your dentist will take X-rays both inside and outside your mouth; however, a visual examination can help reach a diagnosis.

A radiographic exam can help your dentist see contrast between the enamel and dentin of your teeth. This type of exam helps them assess the density of your tooth enamel. Knowing the density can help your dentist determine which type of treatment you need.

Without effective enamel, your teeth are prone to damage and breakage, as well as gum disease such as gingivitis or periodontitis, and tooth decay. Individuals with the condition will need to practice rigorous oral hygiene.

They will need to visit their dentist more frequently for cleanings and evaluations. Most individuals will require extensive dental treatment, which can pose a substantial financial burden for the person or their family.

In addition, because the condition affects the way teeth look, some people may experience emotional or social issues, including depression and low self-esteem. Teenagers, in particular, may become withdrawn due to the pressure to fit in with their peers.

Currently, there is no standard treatment for amelogenesis imperfecta. Treatment depends on the type and severity of the condition. Your dentist will also need to consider your age, the overall condition of your teeth, and the treatments you can afford.

Some examples of treatment options include:

Bonding

In tooth bonding, high-density, modern plastics called composite resins or porcelain veneers attach to teeth to fill in gaps. Bonding procedures are suitable for individuals with hypoplastic amelogenesis imperfecta, as their teeth are usually hard enough to hold the bond.

Full crown restoration

A crown is a tooth-shaped cap that is placed over an existing tooth to restore its appearance and function. It helps restore that tooth’s shape and size.

In the hypocalcified and hypomaturation types, the enamel is typically too weak to retain bonded restorations. So crowns are one of the most durable and predictable options for restoring these teeth. Crowns can also help prevent or eliminate tooth decay.

Temporary crowns of gold, porcelain, or stainless steel can help children or adolescents with the condition. Dentists may delay permanent crowns until early adulthood, when all the teeth are present and stable.

Orthodontic treatment

People with amelogenesis may need orthodontic treatment, such as braces or appliances. The goal isn’t necessarily to make the teeth perfectly straight, but rather to position them in a better way for restorations.

Good dental hygiene

Before undergoing any restorative treatment, it’s essential to maintain optimal dental health. Bleeding or inflamed gums, such as gingivitis, make placement of bonded restorations extremely difficult. Excellent oral hygiene at home is crucial.

If you have painful sensitivity to heat and cold, you can use a desensitizing toothpaste. Visiting a dentist on a regular basis for professional cleaning is also very important.

Low-sugar diet

Similar to good dental hygiene, diets that are low in sugar can help prevent cavities and gum disease, promoting healthy teeth.

Dentures or overlay dentures

A denture is a removable artificial replacement for missing teeth. It’s designed to look like real teeth. An overdenture or an overlay denture is a type of denture that lies directly on your existing teeth. Overlay dentures are reversible and relatively inexpensive compared to other treatment options. They can be a temporary or even a permanent treatment option for people with limited budgets.

If tooth decay has already progressed too far, extraction of the teeth may be necessary. Traditional dentures may then be necessary to replace the missing teeth.

Gene mutations are the most common cause of amelogenesis imperfecta, such as mutations with AMELX, ENAM, or MMP20.

Dental bonding, veneers, and crown restorations can help treat amelogenesis imperfecta.

No, you cannot restore lost enamel on teeth. A person can repair early-stage damage through a natural process known as remineralization, with toothpastes fortified with minerals such as fluoride and calcium.

The earlier the treatment, the better the outlook. Proper dental care can help protect teeth from further damage. If left untreated, the teeth and enamel may become damaged or break. This damage can be painful and will affect the overall appearance of the teeth.

With treatment, however, the teeth can appear natural and remain functional for a lifetime. If you’re a parent who thinks your child’s tooth enamel is not developing properly, see your dentist.