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Journal of Medical Case Reports Feb 2021Rehabilitation of the entire dentition with amelogenesis imperfecta (AI) tends to pose a great challenge to the clinician. Most of the cases of amelogenesis imperfecta... (Review)
Review
BACKGROUND
Rehabilitation of the entire dentition with amelogenesis imperfecta (AI) tends to pose a great challenge to the clinician. Most of the cases of amelogenesis imperfecta are reported to be associated with skeletal and dental deformities which results in severe sensitivity of the dental tissues.
CASE PRESENTATION
This clinical case report marks out the total restoration of the oral condition of a young Indian patient diagnosed with the hypoplastic type of amelogenesis imperfecta. Fixed metal ceramic prosthesis were planned to strengthen the masticatory activity, aesthetics, to banish the dental sensitivity and to build up the general persona of the patient. The patient was followed-up at 6 months, 1 year and 2 years intervals. Functional and esthetic impairment was not visible after the follow up period and the treatment outcome was successful. The entire treatment plan was intended to enhance the functional, esthetic and the masticatory component of the occlusal architecture.
CONCLUSION
This case report details the presentation, characteristic radiographic findings, and management of a patient with an extremely rare condition of amelogenesis imperfecta.
Topics: Amelogenesis Imperfecta; Esthetics, Dental; Humans; Patient Care Planning; Treatment Outcome
PubMed: 33557885
DOI: 10.1186/s13256-020-02586-4 -
Odontology Sep 2016Mineralization defects like amelogenesis imperfecta are often of hereditary origin. This article reviews the diagnostic findings and summarizes the suggested treatment... (Review)
Review
Mineralization defects like amelogenesis imperfecta are often of hereditary origin. This article reviews the diagnostic findings and summarizes the suggested treatment approaches. Currently, there are no defined therapy recommendations available for patients suffering from amelogenesis imperfecta. The mentioned therapies are more or less equal but no comprehensive therapy recommendation is evident. When treating patients suffering from amelogenesis imperfecta, a comprehensive therapy of almost every dental discipline has to be considered. The earlier the diagnosis of amelogenesis imperfecta is confirmed, the better the outcome is. Optimal treatment approaches consist of early diagnosis and treatment approach and frequent dental recall appointments to prevent progressive occlusal wear or early destruction by caries. Full-mouth prosthetic treatment seems to be the best treatment option.
Topics: Amelogenesis Imperfecta; Diagnosis, Differential; Disease Progression; Early Diagnosis; Esthetics, Dental; Humans
PubMed: 27550338
DOI: 10.1007/s10266-016-0266-1 -
The International Journal of... Jun 2018Integrins are cell surface receptors that traditionally mediate cell-to-extracellular matrix and cell-to-cell adhesion. They can, however, also bind a large repertoire... (Review)
Review
Integrins are cell surface receptors that traditionally mediate cell-to-extracellular matrix and cell-to-cell adhesion. They can, however, also bind a large repertoire of other molecules. Integrin αvβ6 is exclusively expressed in epithelial cells where it can, for example, serve as a fibronectin receptor. However, its hallmark function is to activate transforming growth factor-β1 (TGF-β1) to modulate innate immune surveillance in lungs and skin and along the gastrointestinal tract, and to maintain epithelial stem cell quiescence. The loss of αvβ6 integrin function in mice and humans leads to an altered immune response in lungs and skin, amelogenesis imperfecta, periodontal disease and, in some cases, alopecia. Elevated αvβ6 integrin expression and aberrant TGF-β1 activation and function are associated with organ fibrosis and cancer. Therefore, αvβ6 integrin serves as an attractive target for cancer imaging and for fibrosis and cancer therapy.
Topics: Animals; Antigens, Neoplasm; Fibrosis; Humans; Integrins; Neoplasms
PubMed: 29678785
DOI: 10.1016/j.biocel.2018.04.013 -
Journal of Esthetic and Restorative... Jan 2019Defects in the maturation stage of amelogenesis result in a normal volume of enamel but insufficient mineralization, called hypomineralization. Molar-incisor...
INTRODUCTION
Defects in the maturation stage of amelogenesis result in a normal volume of enamel but insufficient mineralization, called hypomineralization. Molar-incisor hypomineralization (MIH), amelogenesis imperfecta and dental fluorosis (DF) are examples of such defects.
OBJECTIVE
To evaluate the effectiveness of the treatments applied to the different forms of dental hypomineralization.
MATERIALS AND METHODS
PubMed, Scopus, Cochrane Library, Web of Science, and Embase were screened. The research was limited to studies published in English, Spanish, and Portuguese, until May 30, 2018. The research question was formulated following the Population, Intervention, Comparison, Outcome strategy. The quality of the methodology of each article was evaluated employing the Cochrane Handbook for Systematic Reviews.
RESULTS
From the initial research, 7895 references were obtained, of which 33 were included in the systematic review. The following treatments were reported: desensitizing and remineralizing products, resin infiltration, restorations, fissure sealants, tooth bleaching, enamel microabrasion and calcium, and vitamins supplements.
CONCLUSIONS
Although the results are suggestive, there is a clear need for a greater uniformity of the methodologies, thus allowing for the development of clinical guidelines. Nevertheless, it was possible to identify several effective treatments for teeth with MIH (arginine pastes or fluoride varnishes) and DF (tooth bleaching and/or enamel microabrasion).
CLINICAL SIGNIFICANCE
Because MIH, amelogenesis imperfecta, and DF are commonly seen in dental daily practice, it is extremely important to analyze the literature regarding its treatment.
Topics: Dental Enamel; Dental Enamel Hypoplasia; Humans; Incisor; Molar; Pit and Fissure Sealants
PubMed: 30284749
DOI: 10.1111/jerd.12420 -
International Journal of Environmental... Jul 2021Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an...
Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an unaesthetic appearance, various treatment options are described. While restoration with a compomer in the anterior region and stainless steel crowns in the posterior region is recommended for deciduous dentition, the challenges when treating such structural defects in mixed or permanent dentition are changing teeth and growing jaw, allowing only temporary restoration. The purpose of this case report is to demonstrate oral rehabilitation from mixed to permanent dentition. The dentition of a 7-year-old patient with AI type I and a 12-year-old patient with AI type II was restored under general anesthesia to improve their poor aesthetics and increase vertical dimension, which are related to problems with self-confidence and reduced oral health quality of life. These two cases show the complexity of dental care for structural anomalies of genetic origin and the challenges in rehabilitating the different phases of dentition.
Topics: Amelogenesis Imperfecta; Child; Crowns; Dentition, Permanent; Humans; Quality of Life; Self Concept
PubMed: 34281141
DOI: 10.3390/ijerph18137204 -
Advances in Experimental Medicine and... 2020Heimler syndrome is a rare syndrome associating sensorineural hearing loss with retinal dystrophy and amelogenesis imperfecta due to PEX1 or PEX6 biallelic pathogenic... (Review)
Review
Heimler syndrome is a rare syndrome associating sensorineural hearing loss with retinal dystrophy and amelogenesis imperfecta due to PEX1 or PEX6 biallelic pathogenic variations. This syndrome is one of the less severe forms of peroxisome biogenesis disorders. In this chapter, we will review clinical, biological, and genetic knowledges about the Heimler syndrome.
Topics: ATPases Associated with Diverse Cellular Activities; Amelogenesis Imperfecta; Hearing Loss, Sensorineural; Humans; Membrane Proteins; Nails, Malformed; Peroxisomal Disorders
PubMed: 33417209
DOI: 10.1007/978-3-030-60204-8_7 -
Frontiers in Physiology 2017Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally... (Review)
Review
Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthetics, causing patients problems such as early tooth loss, severe embarrassment, eating difficulties, and pain. It was first described separately from diseases of dentine nearly 80 years ago, but the underlying genetic and mechanistic basis of the condition is only now coming to light. Mutations in the gene , encoding an extracellular matrix protein secreted by ameloblasts during enamel formation, were first identified as a cause of AI in 1991. Since then, mutations in at least eighteen genes have been shown to cause AI presenting in isolation of other health problems, with many more implicated in syndromic AI. Some of the encoded proteins have well documented roles in amelogenesis, acting as enamel matrix proteins or the proteases that degrade them, cell adhesion molecules or regulators of calcium homeostasis. However, for others, function is less clear and further research is needed to understand the pathways and processes essential for the development of healthy enamel. Here, we review the genes and mutations underlying AI presenting in isolation of other health problems, the proteins they encode and knowledge of their roles in amelogenesis, combining evidence from human phenotypes, inheritance patterns, mouse models, and studies. An LOVD resource (http://dna2.leeds.ac.uk/LOVD/) containing all published gene mutations for AI presenting in isolation of other health problems is described. We use this resource to identify trends in the genes and mutations reported to cause AI in the 270 families for which molecular diagnoses have been reported by 23rd May 2017. Finally we discuss the potential value of the translation of AI genetics to clinical care with improved patient pathways and speculate on the possibility of novel treatments and prevention strategies for AI.
PubMed: 28694781
DOI: 10.3389/fphys.2017.00435 -
Oral Diseases Sep 2023Amelogenesis imperfecta (AI) is one of the typical dental genetic diseases in human. It can occur isolatedly or as part of a syndrome. Previous reports have mainly... (Review)
Review
Amelogenesis imperfecta (AI) is one of the typical dental genetic diseases in human. It can occur isolatedly or as part of a syndrome. Previous reports have mainly clarified the types and mechanisms of nonsyndromic AI. This review aimed to compare the phenotypic differences among the hereditary enamel defects with or without syndromes and their underlying pathogenic genes. We searched the articles in PubMed with different strategies or keywords including but not limited to amelogenesis imperfecta, enamel defects, hypoplastic/hypomaturation/hypocalcified, syndrome, or specific syndrome name. The articles with detailed clinical information about the enamel and other phenotypes and clear genetic background were used for the analysis. We totally summarized and compared enamel phenotypes of 18 nonsyndromic AI with 17 causative genes and 19 syndromic AI with 26 causative genes. According to the clinical features, radiographic or ultrastructural changes in enamel, the enamel defects were basically divided into hypoplastic and hypomineralized (hypomaturated and hypocalcified) and presented a higher heterogeneity which were closely related to the involved pathogenic genes, types of mutation, hereditary pattern, X chromosome inactivation, incomplete penetrance, and other mechanisms.The gene-specific enamel phenotypes could be an important indicator for diagnosing nonsyndromic and syndromic AI.
Topics: Humans; Amelogenesis Imperfecta; Dental Enamel; Dental Enamel Hypoplasia; Dental Enamel Proteins; Phenotype
PubMed: 37154292
DOI: 10.1111/odi.14599 -
International Orthodontics Dec 2023The aim of this systematic review (Prospero CRD42022323188) is to investigate whether an association exists in patients with amelogenesis imperfecta (AI) between...
INTRODUCTION
The aim of this systematic review (Prospero CRD42022323188) is to investigate whether an association exists in patients with amelogenesis imperfecta (AI) between occlusal characteristics and genotype on the one hand and enamel structural phenotype on the other.
MATERIAL AND METHODS
Reports up to May 2023 assessing occlusion of individuals with AI were browsed in a systematic search using Medline, Embase, ISI Web of Science, and the grey literature. Randomised control trials, case control studies, and case series specifying both occlusion, assessed by cephalometric or clinical analysis, and genotype or dental phenotype in patients with AI were included without any age limitation. Two authors independently selected the publications and extracted the data in accordance with the PRISMA statement. The risk of bias was assessed with the Critical Appraisal Checklists from the Johanna Briggs Institute.
RESULTS
Twenty-five articles were chosen from the 261 results. Most of the included publications were case series (n=22) and case control studies (n=3). Thirteen studies reported both a genotype (ENAM, FAM83H, FAM20A, DLX3, CNMM4, WDR72) and occlusal diagnostic. The methodological quality of the studies was moderate. All AI phenotypes showed an open bite (OB) rate around 35%, except mixed form. The other malocclusions were not often mentioned. No correlation between occlusal phenotype and genotype or AI phenotype could be identified in patients with AI, as most studies had short occlusal descriptions and small sample sizes.
CONCLUSION
OB malocclusions were more frequently reported in AI. This review highlighted the need for a more accurate description of orofacial features associated with AI, to better clarify the role of amelogenesis genes in the regulation of craniofacial morphogenesis and identify patients requiring orthognathic surgery at an early stage.
Topics: Humans; Amelogenesis Imperfecta; Genotype; Phenotype; Dental Enamel; Malocclusion; Open Bite; Proteins
PubMed: 37494776
DOI: 10.1016/j.ortho.2023.100789 -
Nature Dec 2023Ameloblasts are specialized epithelial cells in the jaw that have an indispensable role in tooth enamel formation-amelogenesis. Amelogenesis depends on multiple...
Ameloblasts are specialized epithelial cells in the jaw that have an indispensable role in tooth enamel formation-amelogenesis. Amelogenesis depends on multiple ameloblast-derived proteins that function as a scaffold for hydroxyapatite crystals. The loss of function of ameloblast-derived proteins results in a group of rare congenital disorders called amelogenesis imperfecta. Defects in enamel formation are also found in patients with autoimmune polyglandular syndrome type-1 (APS-1), caused by AIRE deficiency, and in patients diagnosed with coeliac disease. However, the underlying mechanisms remain unclear. Here we show that the vast majority of patients with APS-1 and coeliac disease develop autoantibodies (mostly of the IgA isotype) against ameloblast-specific proteins, the expression of which is induced by AIRE in the thymus. This in turn results in a breakdown of central tolerance, and subsequent generation of corresponding autoantibodies that interfere with enamel formation. However, in coeliac disease, the generation of such autoantibodies seems to be driven by a breakdown of peripheral tolerance to intestinal antigens that are also expressed in enamel tissue. Both conditions are examples of a previously unidentified type of IgA-dependent autoimmune disorder that we collectively name autoimmune amelogenesis imperfecta.
Topics: Humans; Amelogenesis Imperfecta; Autoantibodies; Celiac Disease; Immunoglobulin A; Polyendocrinopathies, Autoimmune; Proteins; Ameloblasts; Dental Enamel; AIRE Protein; Antigens; Intestines
PubMed: 37993717
DOI: 10.1038/s41586-023-06776-0