Amelogenesis Imperfecta

What is amelogenesis imperfecta?

Amelogenesis imperfecta is a genetic disorder that causes problems with how your tooth enamel forms. Enamel is the tough outer coating of your teeth that protects the delicate tissue inside. With amelogenesis imperfecta, not enough enamel forms. Or, the enamel that does form isn’t as strong as it should be. The disorder can cause your teeth to be discolored and weak.

Amelogenesis imperfecta can make you feel self-conscious about your smile and anxious about tooth injuries that may land you in the dentist’s chair. Although it may take some time and patience, there are treatments that can strengthen your teeth and improve how they look.

Types of amelogenesis imperfecta

There are four main types of amelogenesis imperfecta, including:

• Type 1 — Hypoplastic. With enamel hypoplasia, not enough enamel forms. The enamel you do have may be thin. You may have smaller-than-average teeth with rough surfaces.
• Type 2 — Hypomaturation. This type happens when the proteins that help form your enamel don’t develop like they should. Although your enamel may be close to normal thickness, it tends to be too soft and prone to chipping.
• Type 3 — Hypocalcified. This type happens when not enough calcium forms to strengthen your enamel. Your enamel may be of normal thickness but prone to chipping and wearing down easily.
• Type 4 — Hypomaturation/hypoplasia/taurodontism. With this type, your tooth enamel may have problems common in types 1 and 2. It may also involve taurodontism. This happens when the body of your tooth is too large and the roots are too short. The unusual tooth proportions can pose challenges when it comes to treatment options.

How common is this condition?

Amelogenesis imperfecta is rare. For example, in the United States, it affects about 1 in 14,000 people.

What are the symptoms of amelogenesis imperfecta?

Signs of amelogenesis imperfecta include having teeth that are:

• Discolored (opaque, chalky white, gray, yellow or brown)
• Atypically small (you may have gaps between your teeth)
• Rough, pitted or grooved
• Brittle and prone to chipping and wearing away
• Sensitive to hot and cold temperatures
• Out of alignment (you may have an open bite, where your top and bottom teeth don’t touch when you close your mouth)

What causes amelogenesis imperfecta?

Amelogenesis imperfecta happens when there’s a mutation on one or more of the genes that control how your tooth enamel develops. These mutations cause problems that can affect the development of your primary (baby) teeth and your permanent (adult) teeth. Most people inherit a mutation from one or both biological parents.

Several genes play a role in enamel formation, including genes that control how proteins and minerals work together to harden enamel. Problems with these genes can cause amelogenesis imperfecta. Some of the most well-known mutations in amelogenesis imperfecta involve the following genes:

• FAM83H
• ENAM
• MMP20
• AMELX

Inheritance pattern

Although mutations can happen spontaneously (by chance), most people with amelogenesis imperfecta inherit the condition. Depending on the type of amelogenesis imperfecta, the inheritance pattern may be:

• Autosomal dominant. You only have to inherit a mutated gene from one biological parent to have amelogenesis imperfecta. Most types of amelogenesis imperfecta are autosomal dominant.
• Autosomal recessive. You have to inherit a mutated gene from both biological parents to have amelogenesis imperfecta.
• X-linked. You inherit the mutation on the X chromosome, not the Y chromosome. Male children with X-linked amelogenesis imperfecta tend to have more noticeable problems and symptoms than female children.

What are the complications of amelogenesis imperfecta?

Problems with tooth enamel can leave the sensitive tissue underneath exposed and more susceptible to dental problems. Amelogenesis imperfecta increases your risk of:

• Cavities (tooth decay)
• Tooth erosion
• Gum disease
• Tooth pain
• Anxiety (you may feel self-conscious about how your teeth look)

How is amelogenesis imperfecta diagnosed?

A dentist can identify amelogenesis imperfecta during a dental exam. Since the disorder is inherited, they may ask about your family history of dental problems. You or your child may need a dental X-ray so the dentist can learn more about your or your child’s tooth structure, like how thin the enamel is.

Genetic testing can confirm the specific mutation and type of the disorder.

How is amelogenesis imperfecta treated?

Your dentist may recommend several treatments depending on the condition of your teeth and whether they’re your baby teeth or permanent teeth. Most people with amelogenesis imperfecta need a combination of treatments to protect their teeth and improve their appearance.

Treatments include:

• Restorative treatments. These treatments fix damaged teeth. For example, you may need one or more dental crowns to cover and protect your teeth. In some cases, total replacement options, like implants and dentures, are the best choice.
• Cosmetic treatments. These treatments improve your appearance. For example, dental bonding and veneers can help if amelogenesis imperfecta causes discolored, chipped or worn down teeth. In addition to helping stabilize teeth, crowns also improve how they look. Whitening treatments can help with teeth that are mottled (colored in spots).
• Orthodontic treatments. You may need to wear dental devices, like braces or aligners, if amelogenesis imperfecta causes a misaligned bite.

What can I expect if I have amelogenesis imperfecta?

Having amelogenesis imperfecta (or having a child with the condition) can feel frustrating. Problems with tooth enamel increase the risk of several dental issues. You may need several treatments spread out over time.

Ask your dentist about what treatments will work best for your teeth. Ask them about the treatment timeline, too, which can vary. This way, you know which improvements to expect and when.

How do I take care of myself?

You’ll need to take extra care to protect your teeth if you have amelogenesis imperfecta. This includes:

• Getting regular dental cleanings. Don’t skip seeing your dentist twice a year for checkups.
• Practicing good oral hygiene. You should brush twice a day and floss daily. You may need to use desensitizing toothpaste and lukewarm water to prevent irritating your teeth.
• Consuming foods and drinks that are good for your teeth. Foods high in vitamins A and D are good for your tooth enamel. Foods and drinks rich in calcium (like dairy products) are also good options.
• Avoiding foods and drinks that can damage your teeth. Try to avoid sugary or acidic foods or beverages. It’s also a good idea to steer clear of gooey foods, like caramel.
• Taking pain medications as needed. Schedule an appointment with your dentist if you’re experiencing tooth pain. In the meantime, you may need to take over-the-counter pain relievers, like acetaminophen and ibuprofen, while you wait. But don’t take these types of pain medications for more than 10 days in a row without talking to your dentist or a healthcare provider.

When should I see my healthcare provider?

Schedule a visit with a dental care provider if you notice signs of amelogenesis imperfecta, like discolored teeth that are weak and prone to chipping. Treatments can protect and restore your teeth and improve their appearance — but there’s no way to regrow enamel once it’s gone. The earlier you receive treatment, the healthier your teeth will be.

What questions should I ask my healthcare provider?

Questions to ask your provider include:

• What type of amelogenesis imperfecta do I have?
• What treatments will I need?
• What will my treatment timeline be?
• What routines can I put into place to care for my teeth?