Amelogenesis Imperfecta



What you might be looking at in the mirror when you smile may be the physical expression of a congenital defect of tooth enamel that affects the way your teeth look, feel and function.  In the past few years, a significant number of new patients seen in our practice whom have been told by their previous dentist that they have “soft teeth” and are genetically predisposed to getting cavities, have a genetic deficiency of enamel formation known as Amelogenesis Imperfecta (AI).


Let’s take Mary’s story as an example.  Mary came in to see us 3 years ago with this question:

“I’ve been told by my dentist that I have soft teeth because every time I go in for a checkup, I have at least 2 new cavities.  I brush twice a day, floss regularly and eat well. Is there such a thing as having genetically bad teeth?”

Mary is not alone and this is one of the most common questions we hear from patients.  Indeed, it is possible that cavity-causing bacteria in our mouths can be transferred to our children--specifically, from mother to child in the early stages of life. If your mother has a particularly virulent strain of these cavity causing bacteria, it is easily transferred to the child when the mother tests the temperature of baby food with her own tongue prior to feeding the baby.  Immediately, the bacteria are transferred to the child and over time, these bacteria colonize the baby’s mouth and learn to live in harmony with the child’s immune system.

Dietary factors are also extremely important in affecting the health of tooth enamel.  You might think that pretzels are a healthy snack option, but for teeth, pretzels like to stick around in deep crevices normally found in healthy tooth structure.  The carbohydrates from pretzels are consumed by the bad bacteria in our mouths (known as Strep mutans), and as the bacteria eat these carbohydrates, they produce acid as a by-product which eventually begins to disintegrate tooth enamel, causing a cavity.  


There is another largely under-diagnosed genetic disease of tooth enamel that is quite common:  Amelogenesis Imperfecta (AI). AI is a genetic defect of tooth enamel and there are 3 types:

  1. Hypoplastic AI
  2. Hypocalcified AI
  3. Hypomaturative AI

The hypoplastic type of AI is a defect in which the enamel structure is imperfect; teeth may appear yellow with white or brown spots, have pitting and/or grooves on the tooth surface (called “mottling”) and the enamel can easily flake away from the tooth surface when provoked.


Hypoplastic AI

With hypocalcified AI, tooth enamel is less calcified.  Enamel may be of normal thickness, but teeth may appear yellowish-white and they are more prone to dental decay.  The enamel stains easily and whitening treatments are usually ineffective. Sometimes, teeth may appear chalky or opaque.

hypomaturative type of AI occurs when enamel never “matures” properly and as a result, teeth are malformed and the enamel covering is very thin or non-existent.  Teeth may appear yellowish-brown, sensitivity is common and teeth are extremely prone to tooth decay.

Hypocalcified AI

Hypomaturative AI


Fortunately, Dr. Gulizio has extensive experience with Amelogenesis patients.  After a thorough clinical and radiographic examination, it may be necessary to have genetic testing performed to determine if indeed you have a congenital defect of tooth enamel.  


Individuals with AI typically present with a “trifecta” of symptoms that accompany soft teeth:  dry, brittle hair, dry skin (eczema and/or psoriasis) and dry eyes/mucous membranes. When these signs are clinically apparent, genetic testing usually isn’t necessary.  If your medical plan has provisions to cover “congenital defects of tooth enamel” and along with a strongly-worded narrative, photographs and x-rays, it is very likely that your medical insurance company will be obligated to cover any dental work related to the disease.  

Core Smiles
1182 Broadway, 4th Floor

New York, NY 10001
Phone: 212-251-0044
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