-
Pediatric and Developmental Pathology :... 2023Unique dental conditions in children include odontogenic cysts and tumors, hereditary dental diseases, developmental anomalies, and lesions associated with the eruption... (Review)
Review
Unique dental conditions in children include odontogenic cysts and tumors, hereditary dental diseases, developmental anomalies, and lesions associated with the eruption of the primary or permanent teeth. Many of these conditions have long lasting effects on the adult dentition in terms of affecting esthetics, function, and overall quality of life. Inherited dental syndromes affect the dental hard tissues specifically the enamel, dentin, and/or cementum in a generalized manner, involving both primary and permanent teeth. These conditions manifest in altered quality or quantity of the hard tissues, leading to fragility, tooth loss and dental diseases such as caries, periapical pathology, and periodontal disease. This category includes amelogenesis imperfecta, dentinogenesis imperfecta, dentin dysplasia, hypophosphatasia, and hypophosphatemia. Developmental defects such as regional odontodysplasia are defined by involvement of the primary and permanent dentition in a localized manner, identified in early childhood. This review will elaborate on the histologic findings in these selected dental conditions with a discussion on clinical and radiographic findings, as well as molecular features wherever appropriate.
Topics: Adult; Humans; Child, Preschool; Child; Quality of Life; Tooth; Amelogenesis Imperfecta; Syndrome
PubMed: 37962547
DOI: 10.1177/10935266231207045 -
Clinical Genetics Mar 2024Amelogenesis imperfecta (AI) represents a group of clinically and genetically heterogeneous disorders that affect enamel formation and mineralization. Although AI is...
Amelogenesis imperfecta (AI) represents a group of clinically and genetically heterogeneous disorders that affect enamel formation and mineralization. Although AI is commonly considered a monogenic disorder, digenic inheritance is rarely reported. In this study, we recruited two nonconsanguineous Chinese families exhibiting diverse phenotypes of enamel defects among affected family members. Digenic variants were discovered in both probands. In family 1, the proband inherited a paternal frameshift variant in LAMA3 (NM_198129.4:c.3712dup) and a maternal deletion encompassing the entire AMELX gene. This resulted in a combined hypoplastic and hypomineralized AI phenotype, which was distinct from the parents' manifestations. In family 2, whole-exome sequencing analysis revealed the proband carried a maternal heterozygous splicing variant in COL17A1 (NC_000010.11 (NM_000494.3): c.4156 + 2dup) and compound heterozygous variants in RELT (paternal: NM_032871.4:c.260A > T; maternal: NM_032871.4:c.521 T > G). These genetic changes caused the abundant irregular enamel defects observed in the proband, whereas other affected family members carrying heterozygous variants in both COL17A1 and RELT displayed only horizontal grooves as their phenotype. The pathogenicity of the novel COL17A1 splice site variant was confirmed through RT-PCR and minigene assay. This study enhances our understanding by highlighting the potential association between the co-occurrence of variants in two genes and variable phenotypes observed in AI patients.
Topics: Humans; Amelogenesis Imperfecta; Phenotype; Frameshift Mutation; Extracellular Matrix Proteins; Biological Variation, Population; Pedigree
PubMed: 37937686
DOI: 10.1111/cge.14449 -
Current Drug Targets 2023Amelogenesis imperfecta (AI) refers to a heterogeneous group of conditions with multiple factors which contribute to the hypomineralisation of enamel. Preventive...
INTRODUCTION
Amelogenesis imperfecta (AI) refers to a heterogeneous group of conditions with multiple factors which contribute to the hypomineralisation of enamel. Preventive measures are necessary to predict this pathology. Prospects for preventive medicine are closely related to the search for new informative methods for diagnosing a human disease. MicroRNAs are prominent for the non-invasive diagnostic platform.
THE AIM OF THE STUDY
The aim of the review is to review the heterogeneous factors involved in amelogenesis and to select the microRNA panel associated with the AI type.
METHODS
We used DIANA Tools (algorithms, databases and software) for interpreting and archiving data in a systematic framework ranging from the analysis of expression regulation from deep sequencing data to the annotation of miRNA regulatory elements and targets (https://dianalab. e-ce.uth.gr/). In our study, based on a gene panel associated with the AI types, twenty-four miRNAs were identified for the hypoplastic type (supplement), thirty-five for hypocalcified and forty-- nine for hypomaturation AI. The selection strategy included the microRNA search with multiple targets using the AI type's gene panel.
RESULTS
Key proteins, calcium-dependent and genetic factors were analysed to reveal their role in amelogenesis. The role of extracellular non-coding RNA sequences with multiple regulatory functions seems to be the most attractive. We chose the list of microRNAs associated with the AI genes. We found four microRNAs (hsa-miR-27a-3p, hsa-miR-375, hsa-miR-16-5p and hsamiR- 146a-5p) for the gene panel, associated with the hypoplastic type of AI; five microRNAs (hsa- miR-29c-3p, hsa-miR-124-3p, hsa-miR-1343-3p, hsa-miR-335-5p, and hsa-miR-16-5p - for hypocalcified type of AI, and seven ones (hsa-miR-124-3p, hsa-miR-147a, hsa-miR-16-5p, hsamiR- 429, hsa-let-7b-5p, hsa-miR-146a-5p, hsa-miR-335-5p) - for hypomaturation. It was revealed that hsa-miR-16-5p is included in three panels specific for both hypoplastic, hypocalcified, and hypomaturation types. Hsa-miR-146a-5p is associated with hypoplastic and hypomaturation type of AI, which is associated with the peculiarities of the inflammatory response immune response. In turn, hsa-miR-335-5p associated with hypocalcified and hypomaturation type of AI.
CONCLUSION
Liquid biopsy approaches are a promising way to reduce the economic cost of treatment for these patients in modern healthcare. Unique data exist about the role of microRNA in regulating amelogenesis. The list of microRNAs that are associated with AI genes and classified by AI types has been uncovered. The target gene analysis showed the variety of functions of selected microRNAs, which explains the multiple heterogeneous mechanisms in amelogenesis. Predisposition to mineralisation problems is a programmed event. Many factors determine the manifestation of this problem. Additionally, it is necessary to remember the variable nature of the changes, which reduces the prediction accuracy. Therefore, models based on liquid biopsy and microRNAs make it possible to take into account these factors and their influence on the mineralisation. The found data needs further investigation.
Topics: Humans; Amelogenesis; MicroRNAs
PubMed: 37936447
DOI: 10.2174/0113894501257011231030161427 -
L' Orthodontie Francaise Nov 2023Bonding to enamel is a daily problem for the orthodontist. While bonding to healthy enamel is nowadays well mastered, bonding to hypomineralized enamel is much less so....
INTRODUCTION
Bonding to enamel is a daily problem for the orthodontist. While bonding to healthy enamel is nowadays well mastered, bonding to hypomineralized enamel is much less so. The aim of this article was to help the orthodontist to optimise bonding, whatever the clinical situation.
MATERIAL AND METHOD
Based on data from the literature, the clinical and microscopic characteristics of healthy and hypomineralised enamel, including amelogenesis imperfecta (AI), molar incisor hypomineralization (MIH), fluorosis or erosion will be described. Proposals for optimising bonding will then be identified and summarized.
RESULTS
Bonding to enamel is reliable, but the use of an etch-and-rinse mode (even with a universal adhesive) is recommended. For AI, MIH and fluorosis, the use of sodium hypochlorite after etching seems to significantly increase bonding. No treatment is needed for eroded enamel. However, deep resin infiltration for severe MIH or superficial resin infiltration for fluorosis would reduce the risk of enamel fracture during bracket removal.
CONCLUSION
It is important to be aware of the characteristics of the dental substrate and the materials used to optimize procedures.
Topics: Humans; Dental Care; Orthodontists; Dental Enamel; Fluorosis, Dental; Amelogenesis Imperfecta; Fluoride Poisoning; Molar Hypomineralization
PubMed: 37930347
DOI: 10.1684/orthodfr.2023.137 -
L' Orthodontie Francaise Nov 2023The precise diagnosis of dental structural anomalies is an essential step preceding our restorative and orthodontic therapies. Indeed, first of all, it is necessary to...
INTRODUCTION
The precise diagnosis of dental structural anomalies is an essential step preceding our restorative and orthodontic therapies. Indeed, first of all, it is necessary to identify the type of structural anomaly and to determine if it is an isolated or a syndromic form: the dental anomaly could be included in a more complex clinical picture combining other clinical signs. Moreover, the establishment of the diagnosis will allow the practitioner to adapt his clinical protocol according to the observed dental structure anomaly. The choice of the bonding material, the type of preparation (no prep, prep less, complete eviction), and the application of a deproteinization protocol with sodium hypochlorite depend to the structural defect.
MATERIAL AND METHOD
The diagnosis of dental structural anomalies is based on several key points described in this article in order to facilitate the practitioner's diagnostic approach.
CONCLUSION
The diagnosis of amelogenesis or dentinogenesis imperfecta should justify the search for other signs to determine whether the anomaly of tooth structure is isolated or syndromic.
Topics: Humans; Amelogenesis; Dental Materials; Sodium Hypochlorite
PubMed: 37930342
DOI: 10.1684/orthodfr.2023.134 -
Journal of Personalized Medicine Oct 2023Hereditary conditions that affect tooth enamel in quantity and/or quality are called amelogenesis imperfecta (AI). AI can occur as an isolated condition or as a symptom...
Hereditary conditions that affect tooth enamel in quantity and/or quality are called amelogenesis imperfecta (AI). AI can occur as an isolated condition or as a symptom of a syndrome. An OMIM search with the term "AI" yielded 79 result entries. Mutations in the same gene cause syndromic or non-syndromic AI, depending on the nature of the mutations. In this study, we recruited two AI families and performed mutational analysis using whole-exome sequencing. The proband of family 1, with hypoplastic pitted AI and mild localized atopic dermatitis, had compound heterozygous mutations (paternal NM_000494.4: c.3598G>T, p.Asp1200Tyr and maternal c.1700G>A, p.Gly567Glu). The proband of family 2, with hypoplastic pitted AI and Jervell and Lange-Nielsen syndrome, had a recurrent mutation (NM_000228.3: c.3463_3475del, p.(Glu1155Thrfs*51)) in addition to compound heterozygous mutations in the KCNQ1 gene.
PubMed: 37888105
DOI: 10.3390/jpm13101494 -
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 -
Journal of Medical Case Reports Oct 2023Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed.
BACKGROUND
Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed.
CASE PRESENTATION
A 5-year and 9-month-old otherwise healthy Yemeni girl presented to her Yemen physician for evaluation of inward bending of her right knee and short stature. After extensive medical testing, she was given a diagnosis of hypophosphatemic rickets and growth hormone deficiency and started on treatment. Despite appropriate treatment, however, her condition continued to progress, prompting her family to pursue additional workup including genetic testing outside of Yemen. Genetic testing ultimately revealed a variation of unknown significance associated with amelogenesis imperfecta.
CONCLUSIONS
Hypophosphatemic rickets secondary to renal tubular acidosis was the working diagnosis. However, the patient's condition did not improve. Further genetic testing revealed a variation of unknown significance associated with amelogenesis imperfecta. We aim to present this case, provide an overview of the causes, and diagnostic metabolic bone health evaluation.
Topics: Female; Humans; Infant; Amelogenesis Imperfecta; Rickets, Hypophosphatemic; Acidosis, Renal Tubular; Diagnostic Errors
PubMed: 37858137
DOI: 10.1186/s13256-023-04164-w -
The International Journal of... Oct 2023Treatment of acute cases of amelogenesis imperfecta is challenging in children due to the absence of a consensus statement on therapy recommendations. This article...
Treatment of acute cases of amelogenesis imperfecta is challenging in children due to the absence of a consensus statement on therapy recommendations. This article presents the effectiveness of an interdisciplinary approach, including orthodontics, orthognathic surgery, and prosthodontics using digital technology, in a child with amelogenesis imperfecta and skeletal deformities. The early management over a 6-year period had a very positive impact on the quality of life related to oral health. The full-mouth rehabilitation in adulthood with all-ceramic crowns showed a fully satisfactory result after 60 months of follow-up.
PubMed: 37824124
DOI: 10.11607/ijp.8656 -
Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG.Oral Diseases Oct 2023
PubMed: 37794759
DOI: 10.1111/odi.14765