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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 -
PloS One 2021Molar incisor hypomineralization (MIH) is an enamel condition characterized by lesions ranging in color from white to brown which present rapid caries progression, and... (Clinical Trial)
Clinical Trial
Molar incisor hypomineralization (MIH) is an enamel condition characterized by lesions ranging in color from white to brown which present rapid caries progression, and mainly affects permanent first molars and incisors. These enamel defects usually occur when there are disturbances during the mineralization or maturation stage of amelogenesis. Both genetic and environmental factors have been suggested to play roles in MIH's development, but no conclusive risk factors have shown the source of the disease. During head and neck development, the interferon regulatory factor 6 (IRF6) gene is involved in the structure formation of the oral and maxillofacial regions, and the transforming growth factor alpha (TGFA) is an essential cell regulator, acting during proliferation, differentiation, migration and apoptosis. In this present study, it was hypothesized that these genes interact and contribute to predisposition of MIH. Environmental factors affecting children that were 3 years of age or older were also hypothesized to play a role in the disease etiology. Those factors included respiratory issues, malnutrition, food intolerance, infection of any sort and medication intake. A total of 1,065 salivary samples from four different cohorts were obtained, and DNA was extracted from each sample and genotyped for nine different single nucleotide polymorphisms. Association tests and logistic regression implemented in PLINK were used for analyses. A potential interaction between TGFA rs930655 with all markers tested in the cohort from Turkey was identified. These interactions were not identified in the remaining cohorts. Associations (p<0.05) between the use of medication after three years of age and MIH were also found, suggesting that conditions acquired at the age children start to socialize might contribute to the development of MIH.
Topics: Adolescent; Amelogenesis; Child; Dental Enamel Hypoplasia; Female; Gene-Environment Interaction; Genotype; Humans; Incisor; Male; Molar; Polymorphism, Single Nucleotide; Transforming Growth Factor alpha
PubMed: 33406080
DOI: 10.1371/journal.pone.0241898 -
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 -
Children (Basel, Switzerland) May 2021Analyze defects in the state of maturation of the enamel result in an adequate volume of enamel, but in an insufficient mineralization, which can affect both deciduous... (Review)
Review
Assessment of Genetical, Pre, Peri and Post Natal Risk Factors of Deciduous Molar Hypomineralization (DMH), Hypomineralized Second Primary Molar (HSPM) and Molar Incisor Hypomineralization (MIH): A Narrative Review.
OBJECTIVES
Analyze defects in the state of maturation of the enamel result in an adequate volume of enamel, but in an insufficient mineralization, which can affect both deciduous teeth and permanent teeth. Among the most common defects, we recognize Deciduous Molar Hypominerlization (DMH), Hypomineralized Second Primary Molar (HSPM), and Molar Incisor Hypomineralization (MIH). These, in fact, affect the first deciduous molars, the second deciduous molars and molars, and permanent incisors, respectively, but their etiology remains unclear. The objective of the paper is to review studies that focus on investigating possible associations between genetic factors or prenatal, perinatal, and postnatal causes and these enamel defects.
MATERIALS AND METHODS
A comprehensive and bibliometric search for publications until January 2021 was conducted. The research question was formulated following the Population, Intervention, Comparison, Outcome strategy. Case-control, cross-sectional, cohort studies, and clinical trials investigating genetic and environmental etiological factors of enamel defects were included.
RESULTS
Twenty-five articles are included. For genetic factors, there is a statistical relevance for SNPs expressed in the secretion or maturation stage of amelogenesis (16% of studies and 80% of studies that investigated these factors). For prenatal, perinatal, and postnatal causes, there is a statistical relevance for postnatal factors, such as the breastfeeding period (2%), asthma (16%), high fever episodes (20%), infections/illnesses (20%), chickenpox (12%), antibiotic intake (8%), diarrhea (4%), and pneumonia (4%).
CONCLUSIONS
The results are in agreement with the multifactorial idea of the dental enamel defects etiology, but to prove this, further studies enrolling larger, well-diagnosed, and different ethnic populations are necessary to expand the investigation of the genetic and environmental factors that might influence the occurrence of DMH, HPSM, and MIH.
PubMed: 34064138
DOI: 10.3390/children8060432 -
Swiss Dental Journal Dec 2022
Topics: Humans; Amelogenesis Imperfecta
PubMed: 36448981
DOI: 10.61872/sdj-2022-12-03 -
Genes Feb 2023Dental enamel is a specialized tissue that has adapted over millions of years of evolution to enhance the survival of a variety of species. In humans, enamel evolved to... (Review)
Review
Dental enamel is a specialized tissue that has adapted over millions of years of evolution to enhance the survival of a variety of species. In humans, enamel evolved to form the exterior protective layer for the crown of the exposed tooth crown. Its unique composition, structure, physical properties and attachment to the underlying dentin tissue allow it to be a resilient, although not self-repairing, tissue. The process of enamel formation, known as amelogenesis, involves epithelial-derived cells called ameloblasts that secrete a unique extracellular matrix that influences the structure of the mineralizing enamel crystallites. There are over 115 known genetic conditions affecting amelogenesis that are associated with enamel phenotypes characterized by either a reduction of enamel amount and or mineralization. Amelogenesis involves many processes that are sensitive to perturbation and can be altered by numerous environmental stressors. Genetics, epigenetics, and environment factors can influence enamel formation and play a role in resistance/risk for developmental defects and the complex disease, dental caries. Understanding why and how enamel is affected and the enamel phenotypes seen clinically support diagnostics, prognosis prediction, and the selection of treatment approaches that are appropriate for the specific tissue defects (e.g., deficient amount, decreased mineral, reduced insulation and hypersensitivity). The current level of knowledge regarding the heritable enamel defects is sufficient to develop a new classification system and consensus nosology that effectively communicate the mode of inheritance, molecular defect/pathway, and the functional aberration and resulting enamel phenotype.
Topics: Humans; Dental Caries; Tooth; Ameloblasts; Phenotype; Dental Enamel
PubMed: 36980818
DOI: 10.3390/genes14030545 -
Journal of Dental Research Aug 2023Tooth enamel is generated by ameloblasts. Any failure in amelogenesis results in defects in the enamel, a condition known as amelogenesis imperfecta. Here, we report...
Tooth enamel is generated by ameloblasts. Any failure in amelogenesis results in defects in the enamel, a condition known as amelogenesis imperfecta. Here, we report that mice with deficient autophagy in epithelial-derived tissues ( and conditional knockout mice) exhibit amelogenesis imperfecta. Micro-computed tomography imaging confirmed that enamel density and thickness were significantly reduced in the teeth of these mice. At the molecular level, ameloblast differentiation was compromised through ectopic accumulation and activation of NRF2, a specific substrate of autophagy. Through bioinformatic analyses, we identified , , , , , and as candidate genes related to amelogenesis imperfecta and the NRF2-mediated pathway. To investigate the effects of the ectopic NRF2 pathway activation caused by the autophagy deficiency, we analyzed target gene expression and NRF2 binding to the promoter region of candidate target genes and found suppressed gene expression of , , , and but not of and . Taken together, our findings indicate that autophagy plays a crucial role in ameloblast differentiation and that its failure results in amelogenesis imperfecta through ectopic NRF2 activation.
Topics: Mice; Animals; Ameloblasts; Amelogenesis Imperfecta; X-Ray Microtomography; NF-E2-Related Factor 2; Amelogenesis; Mice, Knockout; Tumor Suppressor Proteins; Repressor Proteins
PubMed: 37249312
DOI: 10.1177/00220345231169220 -
Proceedings of the National Academy of... Dec 2022The outstanding mechanical and chemical properties of dental enamel emerge from its complex hierarchical architecture. An accurate, detailed multiscale model of the...
The outstanding mechanical and chemical properties of dental enamel emerge from its complex hierarchical architecture. An accurate, detailed multiscale model of the structure and composition of enamel is important for understanding lesion formation in tooth decay (dental caries), enamel development (amelogenesis) and associated pathologies (e.g., amelogenesis imperfecta or molar hypomineralization), and minimally invasive dentistry. Although features at length scales smaller than 100 nm (individual crystallites) and greater than 50 µm (multiple rods) are well understood, competing field of view and sampling considerations have hindered exploration of mesoscale features, i.e., at the level of single enamel rods and the interrod enamel (1 to 10 µm). Here, we combine synchrotron X-ray diffraction at submicrometer resolution, analysis of crystallite orientation distribution, and unsupervised machine learning to show that crystallographic parameters differ between rod head and rod tail/interrod enamel. This variation strongly suggests that crystallites in different microarchitectural domains also differ in their composition. Thus, we use a dilute linear model to predict the concentrations of minority ions in hydroxylapatite (Mg and CO/Na) that plausibly explain the observed lattice parameter variations. While differences within samples are highly significant and of similar magnitude, absolute values and the sign of the effect for some crystallographic parameters show interindividual variation that warrants further investigation. By revealing additional complexity at the rod/interrod level of human enamel and leaving open the possibility of modulation across larger length scales, these results inform future investigations into mechanisms governing amelogenesis and introduce another feature to consider when modeling the mechanical and chemical performance of enamel.
Topics: Humans; Dental Caries; Crystallography; Amelogenesis Imperfecta; Amelogenesis; Dental Enamel
PubMed: 36534796
DOI: 10.1073/pnas.2211285119 -
Indian Journal of Nephrology 2021The enamel renal syndrome (ERS) is a rare autosomal recessive disease that is associated with mutations in the gene. The syndrome is characterized by impaired... (Review)
Review
The enamel renal syndrome (ERS) is a rare autosomal recessive disease that is associated with mutations in the gene. The syndrome is characterized by impaired amelogenesis of the hypoplastic type and nephrocalcinosis, presenting with presence of thin or absence of enamel, late dental eruption, intrapulpal calcifications, bilateral nephrocalcinosis, and normal plasma calcium level. The objective is to characterize ERS by systematically literature reviewing, highlighting the main findings of the syndrome to increase knowledge about this condition in the health professionals. The study is a systematic review of the scientific literature, whose research was developed in the PubMed database in March 2018. A total of 69 articles were found. Two authors analyzed their abstracts and selected, according to the language and main subject, 30 articles to write this study. A total of 69 patients were cited in the studies and their data were analysed. There was gender equivalence and the ages ranged from 1 to 64 years old. There is a clear hereditary relation of the syndrome, since there was consanguinity in 18 cases, indicating a percentage of 26.08% and family history in 30 cases (43.47%). Laboratory changes vary greatly from patient to patient and may even remain unchanged. The relationship between the syndrome and the mutation in the gene can be proven from the data, since all patients with ERS screened by the mutation were positive. With the advancement of the ERS studies, some associations with the syndrome are suspected, such as the presence of gingival fibromatosis, hearing loss, and hypertrichosis. Thus, it is noticed that the syndrome does not show a predilection for gender or age and there is a strong hereditary character, marked by the consanguinity and family history of the patients. The association with the gene is reinforced, since the mutation was identified in all patients analyzed.
PubMed: 33994680
DOI: 10.4103/ijn.IJN_27_19