Amelogenesis imperfecta

Disease Overview

Amelogenesis imperfecta (AI) (amelogenesis – enamel formation; imperfecta – imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage with early tooth decay and loss. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. People with this disease my also have problems involving the tissues surrounding teeth (periodontal tissues) such as gums, cementum, ligaments, and alveolar bones in which the tooth root rests. Teeth are also sensitive to either hot or cold exposures, and sometimes both. Severe and continuous pain due to exposed dentin resulting from the enamel defect is present in some cases.[1144][1892][14715]

There are 4 main types of AI that are classified based on the symptoms, X-rays appearance and  type of enamel defect. The main types are: hypoplastic (type I); hypomaturation (type II); hypocalcified (type III); and hypomaturation/hypoplasia/taurodontism (type IV). These 4 types are divided further into 17 or 18 subtypes, which are distinguished by their specific genetic cause and by their pattern of inheritance.[1892][14715] AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.[1144] Treatment may include dentures that cap the teeth (full crown restorations), orthodontic treatment, special toothpaste for the tooth sensitivity, and good oral hygiene.[14715]