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PubMedDate not supplied

A retrospective study of the prosthodontic management of patients with amelogenesis imperfecta.

PURPOSE: This article reports on a retrospective study on patients with a diagnosis of amelogenesis imperfecta and on their prosthodontic management, oral health status, and attitudes toward their condition. MATERIALS AND METHODS: The study comprised 15 patients and consisted of a clinical evaluation and questionnaire. Clinical examination included records of types of restorations and cements used, rating of restoration quality, as well as complications and periodontal variables. RESULTS: The 15 patients had a total of 213 prosthetic restorations. The median age of the restorations was 60 months. Following the California Dental Association's system, all restorations were rated as acceptable to excellent, with one exception. During the follow-up period, four (2%) restorations had been recemented and 16 (8%) restorations had been redone, five (2%) because of porcelain fractures and 11 (5%) because of caries; two (1%) endodontic treatments were performed after prosthetic restoration. Plaque and Bleeding Indices were 28% and 21%, respectively, while pocket depths of more than 3 mm were found at 7% of all tooth surfaces. All patients judged their condition as having affected them negatively. However, after prosthodontic rehabilitation, patients experienced an improvement in self-esteem. CONCLUSION: Patients with severe clinical manifestations of amelogenesis imperfecta obtained extensive prosthodontic treatment at an early age. The restorations had in general performed well, and all patients were affected positively as a result.

Adolescent↗
PubMed2003

A transgenic animal model resembling amelogenesis imperfecta related to ameloblastin overexpression.

Genetic diseases that affect tooth enamel are grouped under the classification amelogenesis imperfecta. Human pedigrees and experiments on transgenic and null mice have all demonstrated that mutations to the secreted proteins amelogenin, enamelin, and enamelysin result in visibly, structurally, or mechanically defective enamel. In an attempt to better define a physiologic function for ameloblastin during enamel formation, we have produced transgenic mice that misexpress the ameloblastin gene. These transgenic animals exhibit imperfections in their enamel that is evident at the nanoscale level. Specifically, ameloblastin overexpression influences enamel crystallite habit and enamel rod morphology. These findings suggest enamel crystallite habit and rod morphology are influenced by the temporal and spatial expression of ameloblastin and may implicate the role of the ameloblastin gene locus in the etiology of a number of undiagnosed autosomally dominant cases of amelogenesis imperfecta.

Amelogenesis Imperfecta↗
PubMed1997

Oral rehabilitation of a patient with amelogenesis imperfecta.

A patient with Type I hypoplastic patterned amelogenesis imperfecta, subtype D, presented for prosthodontic evaluation. This article describes the developmental and pathophysiological background of this disease. A clinical report describing the diagnosis, treatment planning, and dental rehabilitation of the patient is reviewed.

Adult↗
PubMed2006

Amelogenesis imperfecta--clinical presentation and management: a case report.

Amelogenesis imperfecta (AI) is an inherited disorder which results in enamel defects. The presentation of AI can vary depending on the type and severity of AI. The management of this condition is important for the patient, both functionally and aesthetically. This report describes the management of a young man who was referred to Birmingham Dental Hospital with AI. The patient's primary complaint was the appearance of his front teeth and the sensitivity he was experiencing from his worn molar teeth.

Adolescent↗
PubMed2004

Amelogenesis imperfecta in a new animal model--a mutation in chromosome 5 (human 4q21).

Candidate genes for amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are located on 4q21 in humans. We tested our hypothesis that mutations in the portion of mouse chromosome 5 corresponding to human chromosome 4q21 would cause enamel and dentin abnormalities. Male C3H mice were injected with ethylnitrosourea (ENU). Within a dominant ENU mutagenesis screen, a mouse mutant was isolated with an abnormal tooth enamel (ATE) phenotype. The structure and ultrastructure of teeth were studied. The mutation was located on mouse chromosome 5 in an interval of 9 cM between markers D5Mit18 and D5Mit10. Homozygotic mutants showed total enamel aplasia with exposed dentinal tubules, while heterozygotic mutants showed a significant reduction in enamel width. Dentin of mutant mice showed a reduced content of mature collagen cross-links. We were able to demonstrate that a mutation on chromosome 5 corresponding to human chromosome 4q21 can cause amelogenesis imperfecta and changes in dentin composition.

Amelogenesis Imperfecta↗
PubMed1976

[Amelogenesis imperfecta--structural, ultrastructural and radiocrystallographic study].

Teeth with amelogenesis imperfecta were obtained from three members of the same family, and studied through convergent technics of investigation: classical histology, scanning electron microscopy, high resolution electron microscopy, and crystallographic analysis. The results were compared with theoretical computer calculations. Enamel abnormalities related to the shape and irregular distribution of the crystals. Some needle-shaped crystals were found together with large ones, roughly rectangular. 42% of the crystals were distorted. Widened interplanar spacings were evidence of an hypomineralization. However, the interplanar spacings observed in high resolution electron microscopy, as well as the crystalline degree of the crystals, studied through classical crystallographic methods, revealed an apparently sound hydroxyapatite

Amelogenesis Imperfecta↗
PubMed2003

Case report: clinical management of hypoplastic amelogenesis imperfecta.

BACKGROUND: The fundamental therapeutic problems related to amelogenesis imperfecta treatment are governed by the need to effect primary prevention interventions, reducing the risk of calculus accumulation and caries. There are also aesthetic and functional rehabilitative needs. Clinical management rehabilitation techniques vary depending on the AI type, but usually require restoration of affected teeth. Where orthodontic problems also exist, these should be corrected prior to the final restorative treatment. CASE REPORT: The use of composite resins in aesthetic restoration of permanent anterior and posterior teeth as affected by hypoplastic AI type is described. This case illustrates a patient who suffered from less attrition than those of the hypomineralized varieties. The therapeutic choice has allowed the correction of vertical dimension without the use of preformed crowns.

Amelogenesis Imperfecta↗
PubMed1992

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1).

A family with X-linked amelogenesis imperfecta (XAI) is described in which the disease is associated with a nonsense mutation in exon 5 of the amelogenin gene. This mutation involves a single base deletion (CCCC-->CCC) in the exon in an affected male, his sister and his mother. The effect of this deletion is to alter the reading frame and to introduce an inappropriate TGA stop codon (an opal mutation) into the exonic sequence of the amelogenin gene immediately 3' of the mutation. The clinical features in the examined members of this family indicate that, in some individuals, the most noticeable defect is of enamel hypoplasia. In others, the hypoplastic changes are subtle and might have been overlooked on cursory examination; the most noticeable change is of enamel colour, indicating a degree of hypomineralisation. We propose that the amelogenin gene is implicated in both the formation of enamel of normal thickness and in the normal mineralisation process.

Adolescent↗
PubMed2005

A novel autosomal-recessive mutation, whitish chalk-like teeth, resembling amelogenesis imperfecta, maps to rat chromosome 14 corresponding to human 4q21.

A rat mutant, whitish chalk-like teeth (wct), with white, chalk-like abnormal incisors, was discovered and morphologically and genetically characterized. The mutant rats showed tooth enamel defects that were similar to those of human amelogenesis imperfecta. The wct mutation was found to disturb the morphological transition of ameloblasts from secretory to maturation stages and to induce cyst formation. This mutation also disturbs the transfer of iron into the enamel, resulting in the whitish chalk-like incisors. A genetic linkage study indicated that the wct locus maps to a specific interval of rat chromosome 14 between D14Got13 and D14Wox2. Interestingly, the human chromosomal region orthologous to wct, a 5.5-Mb interval in human chromosome 4q21, is a critical region for the locus of human amelogenesis imperfecta AIH2. These results strongly suggest that this wct mutant is a useful model for the identification of genes responsible for amelogenesis imperfecta and molecular mechanisms of tooth development.

Ameloblasts↗
PubMed1993

Clinical features of a family with X-linked amelogenesis imperfecta mapping to a new locus (AIH3) on the long arm of the X chromosome.

X-linked amelogenesis imperfecta is a condition that affects dental enamel characterized by vertical banding of the enamel in heterozygous females in contrast with more uniform appearances in males. The clinical features of a family with amelogenesis imperfecta are described. The disease in this family has been shown to be unlinked to the amelogenin gene locus on the distal short arm of the X chromosome. It maps instead to a locus on the long arm of the X chromosome in the Xq22-q28 region. There was considerable variability in clinical features in affected females in this family in contrast with the more consistent findings in families linked to the amelogenin gene locus region.

Amelogenesis Imperfecta↗
PubMed2007

Is amelogenesis imperfecta an indication for renal examination?

BACKGROUND: The term 'amelogenesis imperfecta' (AI) describes a diverse group of hereditary conditions primarily affecting the quality and/or quantity of dental enamel. CASE REPORT: This paper describes a case in which hypoplastic AI with delayed/failure of eruption of the permanent teeth was shown to be associated with renal calcification. CONCLUSION: Given the importance of the renal involvement, the authors suggest that paediatric dentists consider referring all children with this dental phenotype for renal ultrasound examination.

Adolescent↗
PubMed1988

Variable expression in Amelogenesis imperfecta with taurodontism.

The hypomaturation-hypoplasia type of Amelogenesis imperfecta with taurodontism is a rare condition. All previously documented cases have featured clinically involved teeth in successive generations. A family is presented in which the son was affected clinically and radiographically, whereas the teeth of his sister and mother were clinically normal but radiographically had the taurodont morphology. Molars extracted from the boy showed both hypoplasia and hypomineralisation on histopathological examination. It is proposed that the taurodont tooth form in the sister and mother represents a partial manifestation of the condition.

Adolescent↗
PubMed2003

Amelogenesis imperfecta: a classification and catalogue for the 21st century.

Amelogenesis imperfecta (AI) is a collective term for a number of conditions with abnormal enamel formation. Many cases are inherited, either as an X-linked, autosomal dominant or autosomal recessive trait. Several classifications have evolved since 1945, based primarily on phenotype with the mode of inheritance being used in some systems as a secondary factor in allocating a case into a particular category. The benefits and shortcomings of these systems are reviewed. As we move into an era of establishing the molecular basis of AI we propose a robust mechanism for classification and cataloguing of the disorder which parallels systems used in medical genetics. This system is applicable to individuals and families irrespective of current or future knowledge of the molecular defect involved. We argue that this system is of more benefit to these individuals and families than previous classifications.

Amelogenesis Imperfecta↗
PubMed1995

Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome.

This paper describes the ultrastructure of the affected enamel and the clinical features in two siblings with the syndrome of nephrocalcinosis and amelogenesis imperfecta. Nephrocalcinosis was diagnosed by intravenous pyelography, and confirmed by ultrasonography and CT scan. Amelogenesis imperfecta AI was diagnosed clinically and histologically. Light microscopy showed that the affected enamel surfaces were rough and the enamel was hypoplastic and mainly positively birefringent. Scanning electron microscopy revealed a rough and extensively cracked enamel surface covered with oval shaped blister-like protrusions. TEM showed porous enamel consisting of loosely packed and randomly oriented thin ribbon-like crystals with little or no prismatic structure. Observations showed that hypoplasia together with hypocalcification and/or hypomaturation defects were present in the same tooth, indicating the possibility of an abnormality in interstitial matrix, leading to dystrophic calcification in the kidney and abnormal tooth enamel formation, or alternatively an involvement of two separate but closely linked genes.

Adolescent↗
PubMed1995

Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).

Amelogenins are an heterogenous family of proteins produced by ameloblasts of the enamel organ during tooth development. Disturbances of enamel formation occur in amelogenesis imperfecta, a clinically heterogenous group of inherited disorders characterised by defective enamel biomineralisation. An amelogenin gene, AMGX, has been mapped to the short of the X chromosome (Xp22.1-p22.3) and has been implicated in the molecular pathology of X-linked amelogenesis imperfecta (AIH1). We have identified three families exhibiting AIH1 and screened the AMGX gene for mutations using single-strand conformational polymorphism analysis and DNA sequencing. Three novel mutations were identified: a C-T substitution in exon 5, and a G-T substitution and single cytosine deletion in exon 6, confirming the existence of extensive allelic heterogeneity in this condition. The identification of family-specific mutations will enable early identification of affected individuals and correlation of clinical phenotype with genotype will facilitate an objective system of disease classification.

Amelogenesis Imperfecta↗
PubMed2003

Unusual manifestations in X-linked amelogenesis imperfecta.

This paper describes a female with X-linked amelogenesis imperfecta (XAI). This case is unusual in having taurodontism, pulpal calcifications, coronal defects prior to tooth eruption and unerupted teeth. These findings have been reported in some cases of autosomal dominant and autosomal recessive AI but have not previously been documented in XAI.

Adolescent↗