Enamel Defects Research Articles

Management of Hypoplastic or Hypomineralized Defects with Resin Infiltration at Pediatric Ages: Systematic Review

Hypoplastic or hypomineralized enamel defects represent a recurrent reason for consultation within the pediatric population, causing great discomfort due to their aesthetic appearance, as well as their functional limitations. Current conservative dentistry requires minimally invasive treatments in order to treat such defects and provide successful, definitive solutions. A systematic review of the literature has been carried out in accordance with the PRISMA recommendations. A search was carried out in the PubMed, Scopus, SciELO and Web of Science databases, completed with a manual search. The following variables were extracted from the selected studies: author, year, publication journal, type of study, sample, age of the participants and the materials used for its development. From the initial electronic search of the four databases, 282 articles were identified: 34 from PubMed, 240 from Scopus, 0 from SciELO and 8 from Web of Science. After eliminating duplicate articles, a total of 225 remained. After reading the title and abstract, 158 articles were eliminated, leaving 68. Upon reading the full text, the remaining studies were eliminated for not answering the research question or the inclusion criteria, leaving a total of 13 articles. Finally, 12 articles were used to carry out the systematic review. Treatments performed to date with the ICON™ system in pediatric patients have shown good results after their application. Since the variability of diagnostic methods has been observed, new diagnostic and assessment protocols should be created after treatment to objectify their effect on hypoplastic or hypomineralized enamel defects. In the same way, it has been described that treatment provides better results if combined with other opalustre-type or remineralizing materials. This review is registered in PROSPERO with the number CRD42021288738.

Effectiveness and Color Stability of Resin Infiltration on Demineralized and Hypomineralized (MIH) Enamel in Children: Six-month Results of a Prospective Trial.

To evaluate the masking effect and color stability of resin infiltration treatment in demineralized (white spot lesion) and hypomineralized (molar incisor hypomineralization) enamel lesions of young permanent anterior teeth. Eighty-four (84) anterior teeth with molar incisor hypomineralization or white spot lesions were treated with resin infiltration. The CIE L*a*b* values of sound enamel and enamel lesions were assessed with spectrophotometer and digital image analysis at baseline, immediate postop, 1 week and 6 months. The difference in ΔL, Δa, Δb, and ΔE measurements between sound enamel and the enamel lesions was compared using the repeated analysis of variance (ANOVA) test at p < 0.05. The enamel lesions were clearly discernible from the sound adjacent enamel at baseline. After resin infiltration, there was a significant drop in ΔE values of sound enamel and enamel lesions compared to baseline, and this difference did not change for 6 months, indicating a durable masking effect. At baseline and after 6 months, there was no significant difference in the ΔE values of the test groups. The demineralized and hypomineralized enamel defects were effectively masked by resin infiltration, which remained clinically stable for 6 months.

The Impact of Socio-Environmental, Individual, and Biological Factors on Oral Health-Related Quality of Life among Preschool Children: A Cohort Study with 3-Year Follow-Up

This study assessed impact of socio-environmental, individual, and biological factors on the worsening and severe worsening of oral health-related quality of life (OHRQoL) among preschoolers and their families. A cohort study was conducted in Diamantina, Brazil, with 151 children between 1 and 3 years of age and their mothers, who were evaluated at baseline (2014) and re-evaluated after 3 years (2017). The children were clinically examined to assess the presence of dental caries, malocclusion, dental trauma, and enamel defects. The mothers answered the Early Childhood Oral Health Impact Scale (B-ECOHIS) and a questionnaire addressing individual characteristics of the child and socio-environmental factors. Extensive caries found in the follow-up (relative risk [RR] = 1.91; 95% confidence interval [CI] = 1.26–2.91) and failure to undergo the dental treatment recommended at baseline (RR = 2.49; 95% CI = 1.62–3.81) were associated with worsening of OHRQoL over 3 years. An increase in the number of children in the household (RR = 2.95; 95% CI = 1.06–8.25), occurrence of extensive caries in the follow-up (RR = 2.06; 95% CI = 1.05–4.07), and failure to undergo the dental treatment recommended at baseline (RR = 3.68; 95% CI = 1.96–6.89) were associated with a severe worsening of OHRQoL. In conclusion, the risk of worsening and severe worsening of OHRQoL was higher in preschoolers with extensive caries at follow-up and among those who did not undergo dental treatment. Furthermore, severe worsening of OHRQoL was also impacted by an increase in the number of children in the household.

Postępowanie kliniczne w amelogenesis imperfecta w wieku rozwojowym – przypadki kliniczne

Amelogenesis imperfecta is a hereditary defect of enamel. It can affect both the primary and permanent dentition. It manifests as: change in enamel structure, shape of teeth, severe malocclusion and can also co-occur with changes in other tissues derived from the ectoderm. In the literature there are several classifications of this disease, the two main ones are the four-stage classification according to Witkop (1988) and the two-stage classification according to Sundell, distinguishing the form associated with enamel hypoplasia and enamel hypomineralization. The aim of this paper is to present the diagnostic and therapeutic management of patients with amelogenesis imperfecta at the developmental age, based on three clinical cases. Three cases were chosen to represent patients with AI: 1) hypoplastic type of AI in 14-year-old girl, 2) hypoplastic type of AI in 12-year-old girl with distoocclusion and retrusion of upper incisors, 3) hypoplastic type of AI in 13-year-old boy with deep overbite and functional retrognathia. Presented methods of treatment were selected depending on the form of lesions, patient’s age and coexisting malocclusion. Direct reconstruction with composite materials was used – free-hand, as well as the technique of indirect reconstruction with steel crowns combined with use of functional orthodontic appliances. Dental treatment in patients with AI should be interdisciplinary. The choice of treatment method depends on the coexisting disorders. It aims to eliminate caries associated with enamel development defects and to correct occlusal conditions, as well as to improve the psychosocial functioning of patients by improving the aesthetics of the teeth.

Electromyographic analysis of the stomatognathic system of children with Molar-incisor hypomineralization.

Molar-incisor hypomineralization (MIH) is a qualitative defect of dental enamel that affects one or more permanent first molars, with or without involvement of the incisor teeth. This condition leads to challenges to dental care and treatment planning. Based on the hypothesis that children who have MIH possibly present alterations in postural and masticatory activities and considering the absence of studies investigating these parameters, the present study evaluated the functionality of the stomatognathic system considering the mentioned aspects. The comparison of individuals with (MIHG; n = 32) and without MIH (CG; n = 32) was evaluated by electromyographic activity of the masseter and temporal muscles (right and left), as well as evaluation of the masticatory cycles during habitual mastication. MIHG showed muscle hyperactivity in postural and dynamic conditions compared to the CG; higher electromyographic values for MIHG when compared to CG in the following postural conditions: at rest for the right temporal (p = 0.00) and left temporal muscles (p = 0.03); in the protrusion to the right temporal muscle (p = 0.02); in the right laterality for the right masseter (p = 0.00) and left temporal muscles (p = 0.01); in the left laterality for the right masseter (p = 0.03) and left temporal (p = 0.04) muscles. In dynamic conditions with consistent food, significance was observed for the left temporal (p = 0.01); and with soft food for the right (p = 0.01) and left temporal muscles (p = 0.04). Children with MIH seem to have impaired functionality of the stomatognathic system. Children with MIH have alterations in the stomatognathic system.

Dietary and metabolic effects on the oral status of patients with phenylketonuria: a nation-based cross-sectional study

ObjectivesThe aim of this study was to compare the prevalence of oral diseases (caries, periodontal disease, enamel defects) between patients with phenylketonuria (PKU), their siblings, and a matched control group.Materials and methodsA total of 109 patients with PKU, 14 siblings of PKU patients, and 100 healthy individuals aged 6 to 68 years were recruited. All participants completed a questionnaire based on their health status. The patients’ decayed/missing/filled teeth index (dmft/DMFT), gingival bleeding index (GBI), plaque control record (PCR), periodontal screening and recording index (PSR), and developmental enamel defects index (DDE) were recorded. Descriptive statistics and regression modeling were used to examine potential associations between the exposure and the outcomes of interest.ResultsPatients with PKU had 1.6 times more caries (95% confidence interval (CI) 1.22 to 2.20; p = 0.001), seven times more enamel defects (95% CI 3.94 to 14.21; p < 0.001), and four times higher PSR values (95% CI 2.26 to 7.15; p < 0.001) than the control group. The siblings had significantly fewer enamel defects but no significant differences in caries and periodontal parameters compared to the PKU patients.ConclusionsThe results showed a higher risk for the development of caries, periodontitis, and enamel defects in PKU patients.Clinical relevanceImplementation of preventive measures and regular dental care is necessary for patients with PKU.

Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.

Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be realized through more complete knowledge of the genes and disease-causing variants that cause AI. In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. Mutational analyses identified biallelic WDR72 mutations in four hypomaturation AI families. Novel mutations include a homozygous deletion and insertion mutation (NM_182758.4: c.2680_2699delinsACTATAGTT, p.(Ser894Thrfs*15)), compound heterozygous mutations (paternal c.2332dupA, p.(Met778Asnfs*4)) and (maternal c.1287_1289del, p.(Ile430del)) and a homozygous 3694 bp deletion that includes exon 14 (NG_017034.2:g.96472_100165del). A homozygous recurrent mutation variant (c.1467_1468delAT, p.(Val491Aspfs*8)) was also identified. Current ideas on WDR72 structure and function are discussed. These cases expand the mutational spectrum of WDR72 mutations causing hypomaturation AI and improve the possibility of genetic testing to accurately diagnose AI caused by WDR72 defects.

Defects‐related early childhood caries as hints of possible maternal–fetal health issues: Evidence from medieval northern Italy

AbstractDevelopmental defects of enamel (DDE) are important markers of stress as they arise from the disruption of ameloblastic activity during enamel matrix secretion and mineralization. Defects on the crowns of the deciduous dentition provide insights into maternal–fetal health because they can emerge during intrauterine development as a result of gestational issues. The presence of previous defective enamel represents one of the most predisposing causes of caries development. Thus, circular caries on the deciduous dentition are considered an indicator of stress because of their ascertained relation with dental enamel defects. In bioarchaeological analysis, these lesions allow us to deepen the question of maternal–fetal health issues in the ancient period. Here, we present evidence of defects‐related early childhood caries in three infants from a medieval cemetery in northern Italy. The findings in the dentitions of the three subjects were investigated with a multi‐analytical approach, including macroscopic examination, microscopic observation, cone‐beam computed tomography (CBCT), scanning electron microscopy (SEM), and histological sections. In the specimens analyzed, the lesions observed in the dentitions appeared to have arisen during the fetal period and then protracted in the postnatal life, suggesting the implication of in utero environment and maternal health in the etiology of defects.

Meaningful measures of enamel hypoplasia: Prevalence and comparative intensity of developmental stress.

Developmental stress causing enamel thinning is an important topic in primate biology. Because taxa differ in growth rates and enamel thickness, the goal is to provide a new method allowing direct comparison of prevalence and salience of enamel defects among samples. Casts of ape teeth spanning the Late Pleistocene to Late Miocene from three site areas of increasing seasonality, equator (Sumatra) to 20° (Vietnam) and 25°N latitude (China), were examined for enamel defects among paleo-orangutans (n=571, 222, respectively) and Lufengpithecus lufengensis (n=198). Frequency of affected teeth and number of linear enamel hypoplasia were recorded. Defect dimensions were measured with a confocal microscope. Simple prevalence is compared to weighted prevalence (%), calculated by dividing "number of LEH from specific tooth groups" by "specific tooth sample size"; this quantity divided by "tooth-specific years of imbricational enamel formation." Defect dimensions are reduced to a dimensionless index termed "enamel deficit ratio" through dividing "daily enamel deficit" by "daily secretion rate." Weighted prevalence increases to the North, highlighting latitudinal similarities. In contrast, "enamel deficit ratio," designed to express comparative severity of developmental stress among samples, was least in the high latitude sample and differed little between paleo-orangutan samples. The actual numbers generated are not as important as efficacy of the proposed methods for other taxa. Developmental stress appears least severe in the high latitude (Lufengpithecus) sample but affects a greater proportion, compared to paleo-orangutans. Regardless of findings, the proposed solutions to improve comparability of disparate samples, yield reasonable results.

Oral Health Status of Ngäbe-Buglé Children in Panama: A Cross Sectional Study.

Poor oral health is often more prevalent in rural and resource-limited areas. Evaluating oral health status in these communities is the first step in ensuring adequate future health care for the population. The aim of this study was to assess the oral health status of children aged 6-12 years living in the indigenous Ngäbe-Buglé communities. A cross-sectional study was conducted in two rural indigenous communities of Ngäbe-Buglé on San Cristobal Island in Bocas del Toro, Panama. All children between 6 and 12 years of age and attending local schools were invited to participate, and those whose parents provided oral consent were enrolled. Dental examinations were performed by one trained dentist. To describe oral health, plaque index, DMFT/dmft (decayed, missing, and filled for permanent and primary teeth) index, and developmental defects of enamel index were recorded. Orthodontic characteristics were also evaluated, assessing the prevalence of different molar classes and the prevalence of open bite, lateral crossbite, and scissor bite. A total of 106 children, representing 37.3% of the child population in the age range attending local schools, were included in this study. The mean plaque index of the entire population was 2.8 (SD 0.8). Caries lesions were more common in children living in San Cristobal (80.0%) compared to those living in Valle Escondido (78.3%), p = 0.827. The mean DMFT/dmft for the entire population was 3.3 (SD 2.9). Developmental defects of enamel were recorded in 49 children (46.2%). The majority of the population had a class I molar relationship (80.0%). Anterior open bite, lateral crossbite, and anterior crossbite were found in 10.4%, 4.7%, and 2.8% of the participants, respectively. The oral health of children living in Ngäbe-Buglé communities is generally poor. Oral health education programs for children and adults might play a crucial role in improving the oral health status of the Ngäbe-Buglé population. In addition, the implementation of preventative measures, such as water fluoridation as well as regular toothbrushing with fluoridated toothpaste and more accessible dental care, will be essential in improving future generations' oral health.

Some orangutans acquire enamel defects at regular intervals, but not according to seasonal cycles

AbstractObjectivesDevelopmental defects of tooth enamel are associated with systemic physiological stress and have been linked to seasonal environmental factors such as rainfall, temperature, and fruit availability. Here, we evaluate whether linear enamel hypoplasia and accentuated perikymata occur with any cyclicity on lower canines and then whether cycles differ between Bornean and Sumatran orangutans.Materials and MethodsEpoxy casts of lower canines from Pongo abelii (n = 14) and P. pygmaeus (n = 33) were evaluated for perikymata and dental enamel defects. Individual developmental sequences (IDSs) were generated for each canine, tracking the position of each defect in the context of continuous perikymata (time). Autocorrelation, a form of time‐series statistical analysis was run for each canine to identify whether any cyclicity of defect expression was discernable.ResultsAutocorrelation revealed cycles of defect expression within canines, but no common cycle periodicities were identified between individuals of the same species or across species. P. pygmaeus averaged more linear enamel hypoplasia per year than P. abelli, but no other comparisons (number of defects, number of perikymata between defects, and autocorrelation analysis) revealed differences between the species.DiscussionAlthough no common patterns of defect expression were identified within or between P. abelli and P. pygmaeus, the potential for autocorrelation analysis is promising for primatological and paleoanthropological studies of seasonal phenomena.

Oral health status in patients with inherited epidermolysis bullosa: a comparative multicenter study.

Epidermolysis bullosa (EB) is a rare genetic mucocutaneous disorder characterized by epithelial fragility leading to blister formation on skin and mucous membranes with even minor mechanical trauma. Most EB oral health publications give fragmented information, focusing on only one oral health aspect or one EB type. The aim of this study was to expand the knowledge of the overall oral health status of individuals with dystrophic, junctional, and simplex EB. A comparative multicenter study, including a control group, and based on questionnaires and clinical examinations, was undertaken in three EB expert centers. Most EB (90.2%) participants brushed their teeth at least once a day despite the pain. The prevalence of enamel defects and caries experience did not differ between the 42 EB participants and the 42 age-/sex-matched healthy controls. Gingival inflammation unrelated to dental plaque accumulation was found in EB participants. Blisters, erythema, and erosion/ulceration mainly involved gingiva, buccal mucosa, lips, and palate, with different topographic patterns according to EB type. EB patients whatever the age showed a similar lesion distribution. Simplex and dystrophic EB patients under 12 years old displayed higher lesion severity than junctional EB ones. Only dystrophic type exhibited microstomia and ankyloglossia. Oral health status seemed to benefit from a close collaboration between dental practitioner and dermatologist, and from regular dental examination, starting at a young age and with a focus on prevention. The new appreciation of oral health involvement highlighted by this study is essential for EB patients care, regarding comorbidities and quality of life.

In-vivo durability of Pro Seal in patients with fixed orthodontic appliances: A controlled clinical trial

This clinical trial aimed at studying the durability of an orthodontic sealant (Pro Seal) used on tooth surfaces for protection against white spot lesions. A total of 35 patients (18 females, 17 males; 17.57 ± 1.36 years) were recruited. Eligibility criteria included healthy patients of both sexes (age > 14 years), absence of labial caries, absence of defective enamel, absence of extensive restorations, and optimum oral hygiene. The participants received a single application of Pro Seal on the bonded teeth. The sealant covered the labial enamel surrounding the brackets. Participants were recalled monthly after sealant application, during which sealant layers were evaluated using an ultraviolet lamp. The assessment was realized using an index similar to the adhesive remnant index (ARI). A total of 30 participants completed the trial. ARI values dropped significantly (P < 0.001) and reached <1.5 at T1 on the index used. An ARI value of 2 was chosen as the threshold below which a tooth presented an insufficient sealant layer. The right and left sides of both jaws did not show any statistically significant difference (P > 0.05). ARI values of homolateral teeth revealed few statistically significant differences between upper and lower teeth. No statistically significant difference between the two sexes (P > 0.05) existed. No harm or disturbance was reported by any of the participants. This study demonstrated that a single application of Pro Seal is effective for 4 weeks and should be renewed monthly. No interjaw, intrajaw, or intersex significant differences were found.

Sulphur dioxide and fluoride co-exposure cause enamel damage by disrupting the Cl-/HCO3- ion transport

ObjectiveAlthough there is growing evidence linking the exposure to sulphur dioxide (SO2) and fluoride to human diseases, there is little data on the co-exposure of SO2 and fluoride. Moreover, literature on SO2 and fluoride co-exposure to enamel damage is insufficient. In this work, we concentrate on the concurrent environmental issues of excessive SO2 and fluoride in several coal-consuming regions. MethodTo identify the toxicity of SO2 and fluoride exposure either separately or together, we used both ICR mice and LS8 cells, and factorial design was employed to assess the type of potential combined action. ResultIn this study, co-exposure to SO2 and fluoride exacerbated enamel damage, resulting in more severe enamel defects of incisor and the damage occurred earlier. Cl-/HCO3- exchanger expression is increased by SO2 and fluoride in mouse incisor. Consistent with in vivo results, co-exposure of SO2 and fluoride decreased pHi and increased [Cl-]i level by increasing the expression of the Cl-/HCO3- exchanger in LS8 cells. Furthermore, SO2 and F may increase merlin protein expression, and merlin deficiency causes AE2 expression to decrease in vitro. ConclusionOverall, these results indicate that co-exposure to SO2 and fluoride may result in more toxicity both in vitro and in vivo than a single exposure to SO2 and fluoride, suggesting that residents in areas contaminated with SO2 and fluoride may be more likely to suffer enamel damage.

Chapter 4: Development Defects of Enamel and Dentine and Coronal Caries.

The development of the human dentition is prone to disruption due to its delicate and complex nature - including variations in tooth number and anatomical form and in the characteristics of enamel, dentine, and cementum. This chapter will focus on developmental defects of dental enamel (DDE) and dentine (DDD), which can be associated with considerable treatment burden on an individual, often related to the change in dental hard tissue characteristics in those at increased caries risk. DDE are prevalent and can be related to genetic conditions such as amelogenesis imperfecta and environmental challenges such as direct physical trauma to the developing tooth or systemic insults during the different phases of amelogenesis. Phenotypical variability can be great, making diagnosis difficult in many cases. There are two major enamel defects - the quantitative defect of hypoplasia and the qualitative defect of hypomineralization. DDDs are less prevalent than DDEs, with two major DDD types: dentinogenesis imperfecta and dentine dysplasia. The main features of the DDDs are enamel fracture exposing the dentine and subsequent wear, with enlarged pulp spaces in some variants. The appearance may be affected, with bulbous teeth and grey-blue to brown opalescent colouring. With respect to dental caries, developmental defects of the teeth, in themselves, do not cause caries risk; however, they can change the manifestation of the disease due to creating niches for biofilm accumulation and thereby increasing cleaning difficulty and changing the physical and chemical characteristics of dental hard tissues and how they react to cariogenic challenges.

Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice.

Truncation mutations in family with sequence similarity, member H (FAM83H) gene are considered the main cause of autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI); however, its pathogenic mechanism in amelogenesis remains poorly characterized. This study aimed to investigate the effects of truncated FAM83H on developmental defects in enamel. CRISPR/Cas9 technology was used to develop a novel Fam83h c.1186C>T (p.Q396*) knock-in mouse strain, homologous to the human FAM83H c.1192C>T mutation in ADHCAI. The Fam83hQ396⁎/Q396⁎ mice showed poor growth, a sparse and scruffy coat, scaly skin and early mortality compared to control mice. Moreover, the forelimbs of homozygous mice were swollen, exhibiting a significant inflammatory response. Incisors of Fam83hQ396⁎/Q396⁎ mice appeared chalky white, shorter, and less sharp than those of control mice, and energy dispersive X-ray spectroscopy (EDS) analysis and Prussian blue staining helped identify decreased iron and increased calcium (Ca) and phosphorus (P) levels, with an unchanged Ca/P ratio. The expression of iron transportation proteins, transferrin receptor (TFRC) and solute carrier family 40 member 1 (SLC40A1), was decreased in Fam83h-mutated ameloblasts. Micro-computed tomography revealed enamel defects in Fam83hQ396⁎/Q396⁎ mice. Fam83hQ396⁎/Q396⁎ enamel showed decreased Vickers hardness and distorted enamel rod structure and ameloblast arrangement. mRNA sequencing showed that the cell adhesion pathway was most notably clustered in LS8-Fam83h-mutated cells. Immunofluorescence analysis further revealed decreased protein expression of desmoglein 3, a component of desmosomes, in Fam83h-mutated ameloblasts. The FAM83H-casein kinase 1α (CK1α)-keratin 14 (K14)-amelogenin (AMELX) interaction was detected in ameloblasts. And K14 and AMELX were disintegrated from the tetramer in Fam83h-mutated ameloblasts in vitro and in vivo. In secretory stage ameloblasts of Fam83hQ396⁎/Q396⁎ mice, AMELX secretion exhibited obvious retention in the cytoplasm. In conclusion, truncated FAM83H exerted dominant-negative effects on gross development, amelogenesis, and enamel biomineralization by disturbing iron transportation, influencing the transportation and secretion of AMELX, and interfering with cell-cell adhesion in ameloblasts.

Assessment of oral manifestations in pediatric patients with celiac disease in relation to marsh types

To investigate the presence of molar-incisor hypoplasia and recurrent aphthous ulcers, the level of caries experience, and oral hygiene status, and to measure salivary flow rate, salivary buffer capacity, and salivary cariogenic microflora with Marsh types. A single-blind, prospective clinical study with 62 pediatric patients diagnosed with celiac disease with 64 controls. Clinical identification of molar-incisor hypomineralization (MIH) was followed according to the European Academy of Pediatric Dentistry criteria. DMFS and dfs index were used for the caries experience of each child. The clinical diagnosis of RAU was present or not. Oral hygiene was surveyed by recording the OHI-S and the CRT® Bacteria and Buffer Test was used to examine the cariogenic microflora of each child. The prevalence of MIH was 61% and the number of recurrent aphthous ulcers were significantly higher in children with celiac disease. There was no statistically significant difference in the CD group, when DMFS, dfs, and MIH parameters were investigated according to dietary compliance. Higher dietary compliance resulted in better oral hygiene status. There was an inverse relationship between the duration of celiac diagnosis and the presence of MIH. A positive relation was found between the duration of the disease and the severity of MIH. In addition to the higher S. mutans counts, the salivary flow rate was very low in children with celiac disease, indicating a positive correlation between poor dietary compliance and poorer oral hygiene. In children, enamel defects and recurrent mucosal lesions may be a sign of celiac disease. Higher numbers of dental caries in permanent teeth of children with celiac disease may be related to Marsh 2 type. The pediatricians and/or pediatric gastroenterologists should refer the chin with celiac disease to the pediatric dentist for the accurate treatment of intraoral manifestations of the disease itself.

Troublesome Teeth, Search for Stones – Enamel-Renal Syndrome

Background: Enamel-renal syndrome (ERS), is a rare autosomal recessive disorder involving family with sequence similarity 20 member A (FAM20A) gene. This unique syndrome is characterized by severe enamel hypoplasia, intrapulpal calcification, nephrocalcinosis, or nephrolithiasis. This case report highlights the early presentation and incidental detection of chronic kidney disease (CKD) in a young child with enamel defects. Clinical Description: A 10-year-old girl, with no significant past or family history, presented with delayed tooth eruption and abnormal shaped teeth. She was detected to have generalized gingival hyperplasia and multiple unerupted teeth. Suspecting amelogenesis imperfecta, she was screened for coexisting systemic conditions. On evaluation, abdominal ultrasound demonstrated bilateral nonobstructive nephrolithiasis. Further renal workup done showed an abnormal creatinine (stage 2 CKD) and mild metabolic acidosis. Reduced urinary citrate excretion with no evidence of hypercalciuria was noted on extensive urine assessment. Genetic testing revealed a novel pathogenic variant in FAM20A, confirming the diagnosis of ERS. Management: The child was initiated on citrate supplements, salt restriction, and adequate hydration. She was advised of dental interventions, including pulp therapy and full-coverage restoration of decayed teeth. The family was counseled about the need for close monitoring of growth, renal function, and progression of nephrolithiasis. Conclusion: Prompt screening for renal associations in oro-dental and systemic disease must be undertaken to ensure early detection of kidney disease and timely institution of appropriate treatment. In children diagnosed to have kidney involvement, the importance of regular follow-up with clinical, biochemical, and imaging modalities, even during adulthood, must be emphasized.

Developmental Defect of Enamel with Midline Diastema: A Case Report, One Year Follow-Up

Developmental Defect of Enamel with Midline Diastema: A Case Report, One Year Follow-Up

Популяционное исследование распространенности целиакии среди школьников г. Москвы

Objective. Examination of schoolchildren in Moscow using a specially designed questionnaire to identify children at risk of developing celiac disease. Patients and methods. The study enrolled 3070 Moscow schoolchildren aged 7–18 years old. Serological and genetic examinations were performed in 42 children at risk for celiac disease, including determination of IgA and IgE to wheat, IgA and IgG to tissue transglutaminase, and IgA to endomysium. Molecular HLA testing for alleles that predispose to celiac disease was conducted. Endoscopic and morphological diagnostics were performed when indicated. Results. The risk group for celiac disease amounted to 10.2% of all schoolchildren surveyed. According to the results of the questionnaire, children in the risk group significantly more often had abdominal pain, excess gas, bloating, flatulence, dyspeptic complaints (diarrhea, constipation, vomiting), asthma attacks or other forms of allergies, headache, joint or body pain, fatigue and weakness, mood swings, depression, anxiety, or episodes of emotional arousal. Changes in height, weight, delayed physical or sexual development, dental enamel defects, and skin rashes were also noted. Of the 42 children in the risk group, the DQ2 heterodimer was detected in 13 (31%) children, the DQ8 heterodimer – in 2 (4.8%), and a combination of DQ2 and DQ8 heterodimers – in 1 (2.4%). Thus, characteristic HLA haplotypes were identified in 38% of the examined children. Three children had IgA antibodies to tissue transglutaminase (at &gt;10 norm) and IgA anti-endomysium antibody titers. Conclusion. The method of questioning by means of a specially designed questionnaire for school-age children allows to identify individuals at risk of developing celiac disease. According to serological, genetic, endoscopic, and morphological investigations, the incidence of celiac disease among children at risk was 7.1%. The prevalence of celiac disease among school-age children in Moscow corresponds to global trends, amounting to 0.7%. Key words: questionnaire, gluten-free diet, cereals, gluten intolerance, celiac disease, children