Hypocalcified type of amelogenesis imperfecta in a large family: clinical, radiographic, and histological findings, associated dento-facial anomalies, and resulting treatment load.

OBJECTIVE: The purpose of this study was to report on the clinical, radiographic, and histological dental findings and the resulting treatment load in a five-generation family with amelogenesis imperfecta (AI). MATERIAL AND METHODS: Thirteen affected and 15 unaffected individuals were examined clinically and radiographically. In addition, four exfoliated deciduous teeth were examined by scanning electron microscopy and microradiography. RESULTS: The mode of inheritance of AI was autosomal-dominant. At eruption, most of the tooth enamel was yellow, lacking translucency, and prone to gradual loss in subjects with AI. Post-eruptive breakdown of enamel was extensive in accordance with the histological observations of hypomineralized and porous enamel. Extensive enamel loss and discoloration were observed in older affected individuals. The treatment need had been extensive: 76.2% of the total number of teeth present in affected individuals had been treated with partial or full coverage compared to 1.7% of the teeth in unaffected relatives. Unaffected individuals had more endodontically treated teeth than AI-affected relatives. Adjunctive findings, e.g. tooth agenesis, tooth impaction, pulp stones, enlarged follicular space, and taurodontism, were rare in both groups. CONCLUSIONS: Affected family members had the hypocalcified type of AI, which is characterized by severe hypomineralization, extensive post-eruptive loss, and discoloration of the enamel. Adjunctive findings were rare. Individuals with the hypocalcified type of AI have an extensive restorative treatment load compared to unaffected relatives.

Amelogenesis imperfecta - a systematic literature review of associated dental and oro-facial abnormalities and their impact on patients.

OBJECTIVE: Amelogenesis imperfecta (AI) is a disease primarily affecting amelogenesis, but other aberrations have been reported. The purposes of this review were: (1) to identify other anomalies associated with AI, and (2) to describe the impact of the disease and its associated conditions on the oral health-related quality of life of patients, and the economic consequences. MATERIAL AND METHODS: A literature search was conducted in the following databases: PubMed, EMBASE, Bibliotek.dk, The Cochrane Library, Web of Science, and OMIM, supplemented by a search for selected authors. Based on titles and abstracts, 137 papers were identified. RESULTS: Most articles were case reports or case series with few cases. Aberrations were reported in the eruption process, in the morphology of the crown, in the pulp-dentine organ, and in the number of teeth. Gingival conditions and oral hygiene were usually reported to be poor, and calculus was a common finding. Open bite was the most commonly reported malocclusion. A negative impact on patients' oral health-related quality of life was described, but information was scarce. No information was found on the economic impact. CONCLUSIONS: A number of aberrations associated with AI have been reported, but not sufficiently systematic to allow for a secondary analysis and synthesis of the findings. The impact on patients in terms of reduced quality of life and economic burden needs to be studied.