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International Journal of Clinical... 2022Amelogenesis imperfecta (AI) is an inherited dental condition affecting enamel, which can result in significant tooth discoloration and enamel breakdown, requiring...
UNLABELLED
Amelogenesis imperfecta (AI) is an inherited dental condition affecting enamel, which can result in significant tooth discoloration and enamel breakdown, requiring lifelong dental care. Distal renal tubular acidosis (dRTA) is a condition in which the kidneys are unable to acidify the urine to a pH < 5.5 in the presence of systemic metabolic acidosis. Management of AI and dRTA patients requires both medical and dental expertise to achieve long-term successful results. The aim of this paper is to present the dental management of a child with AI and dRTA.
HOW TO CITE THIS ARTICLE
Nadaf N, Krishnapriya V, Chandra A, Amelogenesis Imperfecta and Distal Renal Tubular Acidosis. Int J Clin Pediatr Dent 2022;15(1):121-123.
PubMed: 35528488
DOI: 10.5005/jp-journals-10005-2171 -
Journal of Clinical Medicine Jun 2023Individuals with amelogenesis imperfecta (AI) often present with malocclusions, especially a dental or skeletal anterior open bite (AOB). (Review)
Review
BACKGROUND
Individuals with amelogenesis imperfecta (AI) often present with malocclusions, especially a dental or skeletal anterior open bite (AOB).
OBJECTIVES
To evaluate the craniofacial characteristics in individuals with AI.
MATERIAL AND METHODS
A systematic literature search was conducted with the PubMed, Web of Science, Embase and Google Scholar databases to identify studies relating to the cephalometric characteristics of individuals with AI, without any language or publication date restrictions. The grey literature was searched using Google Scholar, Opengrey and Worldcat. Only studies with a suitable control group for comparison were included. Data extraction and a risk of bias assessment were carried out. A meta-analysis was performed using the random effects model for cephalometric variables that were evaluated in at least three studies.
RESULTS
The initial literature search yielded 1857 articles. Following the removal of duplicates and a screening of the records, seven articles were included in the qualitative synthesis, representing a total of 242 individuals with AI. Four studies were included in the quantitative synthesis. The meta-analysis results showed that individuals with AI present a smaller SNB angle and larger ANB angle than those of control groups in the sagittal plane. In the vertical plane, those with AI present a smaller overbite and larger intermaxillary angle than those without AI. No statistically significant differences were found for the SNA angle when comparing the two groups.
CONCLUSIONS
Individuals with AI seem to present with more vertical craniofacial growth, leading to an increased intermaxillary angle and decreased overbite. This possibly leads to a more retrognathic mandible with a larger ANB angle due to an anticipated posterior mandibular rotation.
PubMed: 37298021
DOI: 10.3390/jcm12113826 -
The Journal of the Tennessee Dental... 2015Amelogenesis imperfecta is a hereditary enamel protein disorder affecting deciduous and secondary crown formation. The prevalence ranges from 1:700 to 1:14,000 depending...
Amelogenesis imperfecta is a hereditary enamel protein disorder affecting deciduous and secondary crown formation. The prevalence ranges from 1:700 to 1:14,000 depending on the population. These teeth may be hypoplastic, hypomineralized, or hypermineralized and are often discolored, sensitive and caries vulnerable. Patients often present with psychosocial issues due to appearance. Primary teeth are often treated with stainless steel crowns while secondary teeth are treated with full coverage esthetic crowns. The presenting preteen male here was fitted with Snap-On Smile? (www.snaponsmile.com). This treatment option provided cosmetic enhancement of the patient's appearance besides stabilization without altering the primary and secondary dentition during adolescent development.
Topics: Amelogenesis Imperfecta; Dental Prosthesis; Education, Dental, Continuing; Esthetics, Dental; Face; Humans; Smiling; Treatment Outcome
PubMed: 26433999
DOI: No ID Found -
Journal of Dentistry Jun 2024To summarize studies published between 2017 and 2023 examining the clinical diagnosis and restorative management of amelogenesis imperfecta (AI) in children and... (Review)
Review
OBJECTIVE
To summarize studies published between 2017 and 2023 examining the clinical diagnosis and restorative management of amelogenesis imperfecta (AI) in children and adolescents.
DATA
The review incorporated publications on clinical diagnosis, patient-reported outcomes, clinical trials, cohort studies, and case reports that included individuals below 19 years of age with non-syndromic AI.
SOURCES
A literature search was conducted across electronic databases, PubMed, Web of Science, and CINAHL, including papers published between 2017 and 2023. The search yielded 335 unique results, of which 38 were eligible for inclusion.
RESULTS
New evidence on the genetic background of AI makes it now advisable to recommend genetic testing to supplement a clinical AI diagnosis. The discussions of the dental profession and the public on social media do not always incorporate recent scientific evidence. Interview studies are finding that the impact of AI on quality of life is more severe than previously appreciated. New evidence suggests that single-tooth ceramic crowns should be the first choice of treatment. Due to incomplete reporting, case reports have been of limited value.
CONCLUSION
In young patients with AI symptoms of pain and hypersensitivity decreased, and aesthetics were improved following all types of restorative therapy. Resin composite restorations were mainly performed in cases with hypoplastic AI and mild symptoms. Single tooth ceramic crown restorations have a high success rate in all types of AI and can be used in young individuals with AI.
CLINICAL SIGNIFICANCE
Prosthetic rehabilitation in adolescents with severe AI is cost effective, improves esthetics, reduces tooth sensitivity, and improves oral health-related quality of life.
PubMed: 38909645
DOI: 10.1016/j.jdent.2024.105149 -
International Endodontic Journal Aug 2023Biallelic loss-of-function FAM20A mutations cause amelogenesis imperfecta (AI) type IG, better known as enamel renal syndrome (ERS), characterized by severe enamel...
AIM
Biallelic loss-of-function FAM20A mutations cause amelogenesis imperfecta (AI) type IG, better known as enamel renal syndrome (ERS), characterized by severe enamel hypoplasia, delayed/failed tooth eruption, intrapulpal calcifications, gingival hyperplasia and nephrocalcinosis. FAM20A binds to FAM20C, the Golgi casein kinase (GCK) and potentiates its function to phosphorylate secreted proteins critical for biomineralization. While many FAM20A pathogenic mutations have been reported, the pathogeneses of orodental anomalies in ERS remain to be elucidated. This study aimed to identify disease-causing mutations for patients with ERS phenotypes and to discern the molecular mechanism underlying ERS intrapulpal calcifications.
METHODOLOGY
Phenotypic characterization and whole exome analyses were conducted for 8 families and 2 sporadic cases with hypoplastic AI. A minigene assay was performed to investigate the molecular consequences of a FAM20A splice-site variant. RNA sequencing followed by transcription profiling and gene ontology (GO) analyses were carried out for dental pulp tissues of ERS and the control.
RESULTS
Biallelic FAM20A mutations were demonstrated for each affected individual, including 7 novel pathogenic variants: c.590-5T>A, c.625T>A (p.Cys209Ser), c.771del (p.Gln258Argfs*28), c.832_835delinsTGTCCGACGGTGTCCGACGGTGTC CA (p.Val278Cysfs*29), c.1232G>A (p.Arg411Gln), c.1297A>G (p.Arg433Gly) and c.1351del (p.Gln451Serfs*4). The c.590-5T>A splice-site mutation caused Exon 3 skipping, which resulted in an in-frame deletion of a unique region of the FAM20A protein, p.(Asp197_Ile214delinsVal). Analyses of differentially expressed genes in ERS pulp tissues demonstrated that genes involved in biomineralization, particularly dentinogenesis, were significantly upregulated, such as DSPP, MMP9, MMP20 and WNT10A. Enrichment analyses indicated overrepresentation of gene sets associated with BMP and SMAD signalling pathways. In contrast, GO terms related to inflammation and axon development were underrepresented. Among BMP signalling genes, BMP agonists GDF7, GDF15, BMP3, BMP8A, BMP8B, BMP4 and BMP6 were upregulated, while BMP antagonists GREM1, BMPER and VWC2 showed decreased expression in ERS dental pulp tissues.
CONCLUSIONS
Upregulation of BMP signalling underlies intrapulpal calcifications in ERS. FAM20A plays an essential role in pulp tissue homeostasis and prevention of ectopic mineralization in soft tissues. This critical function probably depends upon MGP (matrix Gla protein), a potent mineralization inhibitor that must be properly phosphorylated by FAM20A-FAM20C kinase complex.
Topics: Humans; Nephrocalcinosis; Amelogenesis Imperfecta; Dental Pulp; Dental Enamel Proteins; Mutation; Calcinosis; Gene Expression Profiling; Carrier Proteins
PubMed: 37159186
DOI: 10.1111/iej.13928 -
Journal of Esthetic and Restorative... Jun 2024The aim of this review was to compare various types of restorations used in children and young adults affected with amelogenesis imperfecta (AI) to determine the most... (Review)
Review
OBJECTIVE
The aim of this review was to compare various types of restorations used in children and young adults affected with amelogenesis imperfecta (AI) to determine the most effective restorative treatment.
METHODS
This systematic review included randomized controlled trials, retrospective and prospective cohorts conducted on children and young adults diagnosed with amelogenesis imperfecta and written in French or English. A systematic search was conducted using four databases, namely Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE via PubMed, Science Direct and Scopus, using a selection of MeSH terms: "Amelogenesis Imperfecta," "Therapeutics," "Treatment Outcome," "Adult, young," "Child," "Dental Restoration, Permanent," "Dental Restoration, Temporary," and "Esthetics, Dental."
RESULTS
Out of 138 articles identified in the initial search, four articles met all the inclusion criteria. The results showed that ceramic restorations had better quality scores and longevity compared to other restorations.
CONCLUSION
Ceramic restorations could be considered the restorative treatment modality of choice for AI-affected children and young adults. However, more high-quality clinical trials involving young patients affected with AI are required to evaluate and compare the outcomes of different restorative approaches.
CLINICAL SIGNIFICANCE
Young patients affected with amelogenesis imperfecta usually suffer from low self-esteem, psychological problems and social avoidance, caused by the alteration of teeth such as discoloration, sensitivity, fractures and reduced size. For the dentist, selecting the appropriate restorative treatment for AI in young patients could be a veritable challenge. Therefore, it is important to have an evidence-based modality. For this reason, in this review, the different restorative approaches used in AI-affected young patients were compared to recommend the most effective treatment.
Topics: Humans; Amelogenesis Imperfecta; Child; Dental Restoration, Permanent; Young Adult; Adolescent
PubMed: 38258433
DOI: 10.1111/jerd.13191 -
British Dental Journal Sep 2021Background Amelogenesis imperfecta (AI) is a genetic enamel defect that can affect both the primary and permanent dentition. It has a range of clinical phenotypes, and...
Background Amelogenesis imperfecta (AI) is a genetic enamel defect that can affect both the primary and permanent dentition. It has a range of clinical phenotypes, and children and young people often present with challenging oral health needs. Patient-reported outcome measures (PROMs) can identify key patient concerns.Methods This was a multi-centre service evaluation across several specialist paediatric dentistry services in the UK. A PROM questionnaire was created with clinician and patient input, through peer review with the national AI Clinical Excellence Network, as well as piloting the PROM with ten children and young people with AI. The final PROM questionnaire was distributed to all patients with AI attending each unit between January and March 2020.Results Sixty children and young people (aged 5-17 years) across four specialist units participated, with 72% reporting that they 'often' or 'sometimes' experienced pain or sensitivity and 76% reporting that they 'often' or 'sometimes' felt unhappy with the way their teeth look. Of the patients who were post-treatment, 81% indicated that they were happy with their teeth, compared to just 41% of patients who were mid-treatment and 33% of patients who were pre-treatment.Conclusion Children and young people with AI experience a range of issues related to their function and psychosocial wellbeing. This simple PROM demonstrates the range of issues this group of patients face, and could be used to monitor an individual's progress to ensure that treatment is planned to address the patient's individual concerns and needs.
PubMed: 34489543
DOI: 10.1038/s41415-021-3329-9 -
Special Care in Dentistry : Official... 2024Amelogenesis Imperfecta (AI) is a disorder of tooth development characterized by abnormal enamel formation. In order to detect other dental and jawbone abnormalities... (Comparative Study)
Comparative Study
BACKGROUND
Amelogenesis Imperfecta (AI) is a disorder of tooth development characterized by abnormal enamel formation. In order to detect other dental and jawbone abnormalities that could be associated with AI, a retrospective and analytic study was conducted comparing panoramic radiographs of AI and non-AI patients.
MATERIAL AND METHODS
Digital panoramic radiographs of 60 AI and 60 non-AI patients were examined. Abnormalities in dental number, size, shape, eruption, and in the shape of the dental arches were checked and blindly recorded by two experimented observers. Descriptive statistics using percentages and chi-square test with .05 level of significance value was used.
RESULTS
Prevalence of supernumerary teeth, dental agenesis, microdontia, taurodontism, radicular dilacerations, dental inclusions, temporary teeth persistence, and pulp calcifications was significantly higher in AI patients compared to control patients. Prevalence of periapical images, cysts, and hypercementosis was lower in AI patients compared to control patients, with no statistically significant difference. A significant prevalence of mandibular hypoplasia was also noted in AI patients.
CONCLUSION
In addition to enamel defect, panoramic radiography was useful in detecting other dental abnormalities and mandibular hypoplasia associated with AI and should therefore be systematically indicated for AI patients' care.
Topics: Humans; Amelogenesis Imperfecta; Radiography, Panoramic; Retrospective Studies; Female; Male; Tooth Abnormalities; Adolescent; Child; Adult; Prevalence
PubMed: 37885117
DOI: 10.1111/scd.12935 -
Oral Diseases Mar 2016Disruption of the third zinc finger domain of specificity protein 6 (SP6) presents an enamel-specific defect in a rat model of amelogenesis imperfecta (AMI rats). To...
OBJECTIVE
Disruption of the third zinc finger domain of specificity protein 6 (SP6) presents an enamel-specific defect in a rat model of amelogenesis imperfecta (AMI rats). To understand the molecular basis of amelogenesis imperfecta caused by the Sp6 mutation, we established and characterized AMI-derived rat dental epithelial (ARE) cells.
MATERIALS AND METHODS
ARE cell clones were isolated from the mandibular incisors of AMI rats, and amelogenesis-related gene expression was analyzed by reverse transcription polymerase chain reaction (RT-PCR). Localization of wild-type SP6 (SP6WT) and mutant-type SP6 (SP6AMI) was analyzed by immunocytochemistry. SP6 transcriptional activity was monitored by rho-associated protein kinase 1 (Rock1) promoter activity with its specific binding to the promoter region in dental (G5 and ARE) and non-dental (COS-7) epithelial cells.
RESULTS
Isolated ARE cells were varied in morphology and gene expression. Both SP6WT and SP6AMI were mainly detected in nuclei. The promoter analysis revealed that SP6WT and SP6AMI enhanced Rock1 promoter activity in G5 cells but that enhancement by SP6AMI was weaker, whereas no enhancement was observed in the ARE and COS-7 cells, even though SP6WT and SP6AMI bound to the promoter in all instances.
CONCLUSION
ARE cell clones can provide a useful in vitro model to study the mechanism of SP6-mediated amelogenesis imperfecta.
Topics: Amelogenesis Imperfecta; Animals; Cells, Cultured; Epithelial Cells; Gene Expression; Incisor; Kruppel-Like Transcription Factors; Promoter Regions, Genetic; Rats; rho-Associated Kinases
PubMed: 26582753
DOI: 10.1111/odi.12396 -
Journal of Esthetic and Restorative... Jul 2023This article will provide an overview of the clinical presentation, treatment considerations, and sequencing of treatment for a patient with amelogenesis imperfecta...
OBJECTIVES
This article will provide an overview of the clinical presentation, treatment considerations, and sequencing of treatment for a patient with amelogenesis imperfecta (AI). The different types and subgroups of AI will be described, focusing on Type I hypoplastic form of the condition.
OVERVIEW
Patients with AI all have abnormal enamel formation but some may also present with vertical dysgnathia, anterior open bite, and posterior crossbite. A case report demonstrates the sequencing and implementation of necessary orthodontic and prosthodontic treatments, beginning in the mixed dentition and ending with esthetic and functional permanent restorations in the permanent dentition.
CLINICAL SIGNIFICANCE
AI is a disorder of tooth enamel formation but may also affect the face, jaw relationship, occlusion, compromised esthetics, and can potentially cause psychological damage due to the appearance of the teeth. Treatment of AI should be initiated at a young age.
Topics: Humans; Amelogenesis Imperfecta; Dental Enamel; Tooth; Malocclusion
PubMed: 37158443
DOI: 10.1111/jerd.13063