What is Amelogenesis Imperfecta?

2 Mar 2018
Dental care - Oral Health - Preventative Care

Tooth enamel is composed almost exclusively of the mineral hydroxyapatite, making it the hardest tissue in the body. Although it helps create beautiful smiles, its most important role is protecting the teeth’s more sensitive inner layers. Occasionally, however, a child’s teeth develop without this vital surface material. Having no enamel on the teeth puts your child at a higher risk for several dental complications. Here’s what you need to know about the condition, called amelogenesis imperfecta.

What is amelogenesis imperfecta?
Amelogenesis imperfecta (AI) is a disorder that interrupts the formation of tooth enamel affecting the structure and appearance of the enamel of the teeth. Both baby teeth and permanent teeth can be affected, and according to the National Institutes of Health’s (NIH), one in 14,000 people in the U.S. carry some form of it. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage.

What causes amelogenesis imperfecta?
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. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Mutations in any of these genes alter the structure of these proteins or prevent the genes from making any protein at all. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. In some cases, the genetic cause of amelogenesis imperfecta cannot been identified. Researchers are working to find mutations in other genes that are responsible for this disorder.

What are the symptoms?
In general, both the primary and permanent teeth are affected. The enamel tends to be soft and weak, and the teeth appear small due to this and often discolored, pitted and prone to breaking. The defects associated with amelogenesis imperfecta are highly variable and include abnormalities classified as hypoplastic (defects in the amount of enamel), hypomaturation (defect in the final growth and development of the tooth enamel), and hypocalcification (defect in the initial stage of enamel formation followed by defective tooth growth). The enamel in the hypomaturation and hypocalcification types is soft and eventually wears off the teeth and leaves the underlying layer of dentin exposed. The enamel in the hypoplastic form of the condition produces an abnormally thin layer of enamel that is still normal in hardness. Traditionally, the diagnosis and classification of amelogenesis imperfecta is based on the clinical presentation and the mode of inheritance.

How does amelogenesis imperfecta effect your teeth?
Tooth enamel is the first line of defense against tooth decay. So, when the soft layer of dentin isn’t covered, teeth can decay rapidly, putting the nerves and blood vessels within the tooth at risk for infection. Because the teeth are usually rough and pitted, they also attract heavy plaque and tartar accumulations, which can lead to gum disease more quickly. And without enamel to insulate the tooth, tooth sensitivity – especially to hot and cold – can be extremely uncomfortable.

How is amelogenesis imperfecta treated?
If you suspect your child’s tooth enamel hasn’t developed normally, see your dentist right away. They can easily diagnose this condition and work with you to discuss treatment options. In many cases, full crowns can protect the teeth from damage, reduce sensitivity and improve their overall appearance. Because of the high risk of decay and gum disease, your dentist will want you to be extra diligent with your child’s home care as well. Thoroughly brushing your teeth twice a day can help stave off cavities and reduce ongoing tooth sensitivity in the interim. Flossing daily is still a must, as well as regular dental checkups and routine cleanings to remove any tartar buildup. You may also want to ask your dentist about in-office fluoride treatments, and more lasting solutions to sensitivity. Of course, you can’t overlook the benefit of a healthy diet that is low in sugars and rich in vitamins and minerals. Teaching the essentials of these foods can go a long way to preventing dental disease. No enamel on teeth that are new or permanent can present challenges for you and your child. With the help of your dentist, your family can be on its way to a beautiful smile and a healthy mouth for life.

Do you have questions about amelogenesis imperfecta? Call Hartnett Dental to schedule an appointment with your dentist today! (716) 649-6633.