Amelogenesis Imperfecta (AI)

Amelogenesis Imperfecta (AI) is a group of genetic conditions that affect the enamel of the teeth. It leads to abnormal formation and development of enamel, causing teeth to be discolored, pitted, grooved, or very thin and easily damaged. Although researchers have identified at least 20 types of AI, all are characterized by abnormal enamel development.

How Amelogenesis Imperfecta Impacts your Life & Smile

It affects the structure and appearance of teeth exclusively but may be associated with other congenital anomalies. Consequently, teeth are likely to be sensitive, discolored, susceptible to rapid wear, and prone to breaking. A relatively uncommon, inherited disorder, 23,000 people in the United States have AI.

AI is managed by early identification and comprehensive treatment to minimize the impact of AI on quality of life. Ongoing follow-up care should be continued throughout childhood and into adult life.

FAQs

  • AI is caused by mutations in genes that are involved in enamel formation. These genes can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern. The specific gene mutations determine the type and severity of AI.

  • There are four main types of AI, classified based on the appearance of the enamel and the specific genetic mutation:

    • Hypoplastic AI: Enamel is hard but thin.

    • Hypomaturation AI: Enamel has normal thickness but is not fully mineralized, making it softer than normal.

    • Hypocalcified AI: Enamel is normal in thickness but is very soft and chalky.

    • Hypomaturation/Hypoplasia with Taurodontism: A combination of hypomaturation and hypoplastic features with enlarged pulp chambers in the teeth.

  • Diagnosis is based on clinical examination, family history, and genetic testing. Dentists look for characteristic signs of enamel defects and may use X-rays to assess the condition of the teeth.

  • Treatment focuses on managing symptoms and protecting the teeth:

    • Dental crowns or veneers to protect damaged teeth and improve appearance

    • Bonding procedures to fill gaps or cover discolored areas

    • Orthodontic treatment for alignment issues

    • Good oral hygiene practices to prevent decay and other dental issues

  • Symptoms include:

    • Discolored teeth (yellow, brown, or grey)

    • Teeth that are unusually small or appear pitted and grooved

    • Increased sensitivity to temperature and pressure

    • Rapid wear and tear of teeth

    • Chipping and breaking of teeth

  • AI can significantly impact a person's oral health and quality of life. Affected individuals may experience discomfort, pain, and embarrassment due to the appearance of their teeth. Regular dental visits and proper treatment can help manage these challenges.