Dental Enamel Hypoplasia Research Articles

Dental staining after doxycycline use in children.

BackgroundThe use of doxycycline has been avoided before 8 years of age due to known dental staining caused by tetracyclines, although doxycycline differs from classical tetracyclines in many ways. Doxycycline is still an important antimicrobial agent, but its dental safety is not well studied.ObjectivesTo examine the state of permanent teeth after doxycycline exposure in children <8 years of age.MethodsDetails of doxycycline treatment were collected from medical records. After the eruption of permanent teeth the dental status was examined by an experienced paediatric dentist for detection of dental staining and enamel hypoplasia. The resulting dental photographs were evaluated by a second independent experienced paediatric dentist.ResultsThe mean age of 38 study subjects at the time of doxycycline treatment was 4.7 years (range 0.6–7.9 years, SD 2.3). The doxycycline dose was 10 mg/kg/day (varying from 8 to 10 mg/kg/day) for the first 2–3 days and 5 mg/kg/day (varying from 2.5 to 10 mg/kg/day) thereafter. The mean length of the treatment was 12.5 days (SD 6.0) and ranged from 2 to 28 days. Tetracycline-like staining or enamel hypoplasia of developing teeth was detected in none of the subjects.ConclusionsDoxycycline treatment of small children does not seem to induce permanent tooth staining.

Polyendocrinopathies auto-immunes de type 1 et pathologies buccales

Auto-immune polyendocrine syndrome type1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. These patients suffer from oral diseases such as dental enamel hypoplasia and candidiasis. Both are frequently described, and in recent series, enamel hypoplasia and candidiasis are even the most frequent components of APS1 together with hypoparathyroidism. Both often occur during childhood (before 5years old for canrdidiasis, and before 15years old for enamel hypoplasia). Oral candidiasis is recurrent all life long, could become resistant to azole antifungal after years of treatment, and be carcinogenic, leading to severe oral squamous cell carcinoma. Oral components of APS1 should be diagnosed and rigorously treated. Dental enamel hypoplasia and/or recurrent oral candidiasis in association with auto-immune diseases in a young child should prompt APS1 diagnosis.

Original Research. The Evaluation of Caries Severity Index and Dental Hypoplasia in Children with Acute Lymphoblastic Leukemia. Results from a Romanian Medical Center

Abstract Acute lymphoblastic leukemia (ALL) is a type of cancer that most frequently affects children, and its treatment involves intensive chemotherapy, which might interfere with the normal development of dental tissues. The aim of our study was to measure the incidence of dental caries and enamel hypoplasia in children diagnosed with ALL treated according to the Berlin-Frankfurt-Munster-95 (ALL-BFM-95) protocol during the complete remission phase. Two groups of children between 8-12 years of age were investigated: Group 1 consisted of 36 children with ALL, and Group 2 of 58 control age-matched children. The decay-missing-filling index for the deciduous teeth (DMFT) and the presence of hypoplasia in the first permanent molars (MH) or in both incisors and molars (MIH) were recorded. The results were statistically analyzed and showed that there were no differences between the groups regarding the DMFT values (p &gt;0.05), but there was a statistically significant difference in the incidence of MH and MIH between groups (p &lt;0.05). According to our results, chemotherapy was not responsible for the decay process, as there were no differences in DMFT indices between the groups, but the high incidence of MH and MIH in the ALL group indicates the need of a good dental care for these children in order to prevent future dental complications.

Rare case of nephrocalcinosis in a 14-year-old girl: Questions

A 14-year-old Caucasian girl with a history of primary hypoparathyroidism and unstable calcium and phosphorus levels and on ongoing treatment was admitted to the Department of Pediatric Nephrology because of the onset of nephrocalcinosis and difficulties achieving normocalcemia. Coexistence of hypoparathyroidism, oral candidiasis, dental enamel hypoplasia, and subclinical Hashimoto’s disease was strongly suggestive for autoimmune polyglandular syndrome (APS) type I. One of the clinical implications of this diagnosis is the high probability of future occurrence of adrenal insufficiency and hence the importance of maintaining a high level of suspicion in case of the onset of symptoms like weakness, fainting, hypotonia, or hyperkaliemia. Addison’s disease would, in fact, be quite challenging for the future management of this patient.This clinical quiz highlighted the importance of careful evaluation of all multiorgan symptoms occurring in a patient to prevent further complications.

Resilience in prehistoric persistent hunter–gatherers in northwest Kyushu, Japan as assessed by population health and archaeological evidence

Resilience theory provides a critical framework for examining the capacity of human societies to respond to changes to essential features of the human–environment relationship. Studies employing the long-term perspective required to understand adaptive cycles of resilience are still rare. Despite the challenges of working with variably preserved materials and small sample sizes, archaeological remains provide access to longitudinal data. One way of approaching human resilience is through its impacts on human well-being, which is often measured via population health. Population health is typically described by child mortality and morbidity rates. Here, we argue that the specific use of permanent biological markers of developmental stress (fluctuating dental asymmetry and dental enamel hypoplasia) serve as a proxy for prehistoric population health. A case study from Japan is used to test this proposal. We focus on persistent hunter–gatherer populations before and after the introduction of agriculture to the region. Too frequently the focus of research in periods of agricultural transition favors those populations making the transition to agriculture, dismissing persistent hunter–gatherers as on the ecological margins. Archaeological data from prehistoric NW Kyushu indicate the persistence of a culturally autonomous hunter–gatherer Jōmon population for several centuries into the agricultural Yayoi period. Did these populations suffer from a decline in population health as might be expected if they were, in fact, reduced to the margins of the social-ecological system? Using dental markers of developmental stress from six persistent hunter–gatherer sites in NW Kyushu, we tested the hypothesis that hunter–gatherer developmental stress loads did not change over time. There were no statistically significant differences in developmental stress between pre-agricultural hunter–gatherers and persistent hunter–gatherer during the agricultural period. We interpret the results as evidence of resilience of these persistent hunter–gatherers in spite of major disruptions from immigrant agricultural populations to the social and ecological environments of NW Kyushu. Developmental stress in an archaeological context may serve as a useful proxy of resilience of past populations and future studies might take additional indicators of health into consideration.

A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

To identify genetic defects in a large family with open angle glaucoma (OAG) and microcornea. Genomic DNA was prepared from leukocytes of 15 individuals from three generations of a Chinese family, including seven individuals with OAG and microcornea, one with microcornea alone, and seven healthy individuals. Whole exome sequencing was performed on genomic DNA of the proband. Candidate variants were obtained through multiple steps of bioinformatics analysis and validated by Sanger sequencing and segregation analysis. Exome sequencing detected a candidate variant in GJA1, a novel truncation mutation (c.791_792delAA, p.K264Ifs*43). This mutation was present in all seven individuals with OAG and microcornea and the individual with microcornea alone, but not in the seven unaffected relatives in the family. It was not present in 1394 alleles from 505 unrelated controls without glaucoma and 192 normal controls. Extraocular signs were not observed in seven out of the eight individuals; only one was affected with dental enamel hypoplasia and syndactyly. A novel truncation mutation in GJA1 is associated with OAG and microcornea in a Chinese family. This suggests that GJA1 should be included as a candidate gene for glaucoma.

No Visible Dental Staining in Children Treated with Doxycycline for Suspected Rocky Mountain Spotted Fever

To evaluate whether cosmetically relevant dental effects occurred among children who had received doxycycline for treatment of suspected Rocky Mountain spotted fever (RMSF). Children who lived on an American Indian reservation with high incidence of RMSF were classified as exposed or unexposed to doxycycline, based on medical and pharmacy record abstraction. Licensed, trained dentists examined each child's teeth and evaluated visible staining patterns and enamel hypoplasia. Objective tooth color was evaluated with a spectrophotometer. Fifty-eight children who received an average of 1.8 courses of doxycycline before 8 years of age and who now had exposed permanent teeth erupted were compared with 213 children who had never received doxycycline. No tetracycline-like staining was observed in any of the exposed children's teeth (0/58, 95% CI 0%-5%), and no significant difference in tooth shade (P=.20) or hypoplasia (P=1.0) was found between the 2 groups. This study failed to demonstrate dental staining, enamel hypoplasia, or tooth color differences among children who received short-term courses of doxycycline at <8 years of age. Healthcare provider confidence in use of doxycycline for suspected RMSF in children may be improved by modifying the drug's label.

Multi-species Perspectives on Anthropogenic Environments: Dental Pathology Patterns, Marquesas Islands (Polynesia)

ABSTRACTWe undertake a multi-species comparison to investigate prehistoric human-animal interactions and changing environmental conditions, both natural and anthropogenic in origin. The differing vantage points offered by domesticated pigs (Sus scrofa) and dogs (Canis familiaris), and their human managers are considered. Initially, a framework for multi-species comparisons is developed, taking into account species-specific life histories, and aimed at understanding intra- and inter-species patterns of dental pathologies. Using a case study from the Marquesas Islands, we examine the frequency, distribution, and severity of dental calculus, caries, and enamel hypoplasia across these three species to identify changes in diet and non-specific stressors. We specifically assess the hypothesis that anthropogenic impacts on local environments over a ca. 600-year period of human occupation, combined with deteriorating climate conditions in late prehistory, led to a worsening of conditions for all three species. Results from the dental pathology analysis are supportive. Calculus and caries increased over time, suggesting dietary changes which adversely affected oral health but not necessarily nutrition. Additionally, instances of enamel hypoplasia were more common and more severe in late prehistory, suggesting non-specific stressors increased. In the best represented animal (domestic pigs), shifts in human management practices also are indicated.

A Case Report on Autoimmune Polyendocrine SyndromeType 1

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder characterized by autoimmune multiorgan dysfunction. The major components of APS type 1 are chronic mucocutaneous candidiasis,hypoparathyroidism and Addison’s disease.To establish this syndrome, at least two of these conditions have to be present. We report here one of such case, a 15-year old boy who presented with features of chronic mucocutaneous candidiasis, hypoparathyroidism, primary hypothyroidism,nail dystrophy and dental enamel hypoplasia that were consistent with APS-1.DOI: http://dx.doi.org/10.3329/jom.v15i1.19886 J Medicine 2014; 15: 98-101

Celiac Disease

Triggered by the ingestion of gluten in genetically predisposed individuals, celiac disease is the most common genetically based food intolerance in the world, with a prevalence among approximately 1% of the general population. This enteropathy may appear at any age and is characterized by a wide variety of clinical signs and symptoms that go well beyond the gastrointestinal tract. In young children, gastrointestinal presentations are common and include chronic diarrhea, failure to thrive, and abdominal distention; however, extraintestinal manifestations are becoming increasingly more common. They include numerous conditions such as dermatitis herpetiformis, anemia, dental enamel hypoplasia, recurrent oral aphthae, short stature, osteoporosis, arthritis, neurologic problems, unexplained elevation of transaminase levels, and female infertility. Therefore, diagnosing celiac disease requires a high degree of suspicion, followed by correct screening and a confirmatory test with an intestinal biopsy. After diagnosis, a strict gluten-free diet must be followed, which in most cases will bring a marked improvement of symptoms. However, there are important compliance and quality-of-life problems, especially in adolescents.

Late diagnosis of celiac disease in an asymptomatic infant with growth failure

The clinical spectrum for celiac disease (CD) is broad and includes cases with either typical (intestinal) or atypical (extraintestinal) features, often making the diagnosis of CD very difficult.We describe the case of a girl presenting with stunted growth and malnourishment. She was evaluated at 14 months for decreased growth rate without any signs of gastrointestinal, renal or endocrine disorders. She was evaluated for CD, but resulted negative for anti-tTG antibodies.At the age of 4.1 years, she exhibited basal dental enamel hypoplasia, iron deficiency anaemia despite repeated iron supplementation, with persistent reduced height (-2.79 SDS), BMI (-0.76 SDS), growth velocity (-1.79 SDS) and delayed bone age (1.5 year). The CD screening was repeated and very high anti-tTG-IgA (128 IU/ml, normal values < 7 IU/ml) and anti-tTG-IgG (77 IU/ml, normal values < 7 IU/ml) values were found. HLA genotyping revealed an HLA DQ2 haplotype. A duodenal biopsy revealed severe villous atrophy with crypt hyperplasia and increased intraepithelial lymphocytes (> 40 IELs/100 epithelial cells) confirming the diagnosis of CD. A gluten-free diet was started and after only four months, her growth velocity increased from 4.83 cm/year (-1.79 SDS) to 6.53 cm/year (-0.15 SDS).In conclusion, we report the development of a positive serology for CD in an asymptomatic child with growth retardation, who previously was investigated for CD and resulted negative. Therefore, when faced with retarded growth in young patients, after excluding other malabsorption conditions and even when CD serological markers are negative, the paediatric endocrinologist should request HLA genotyping, before the intestinal biopsy, in order to check for the presence of risk alleles.

The possible correlation between dental enamel hypoplasia and a historic natural disaster in the Roman population of Herculaneum (79 AD ? central Italy)

Dental enamel hypoplasia is usually read as a sign of a systematic growth disturbance during childhood. Following the analysis of human teeth from Herculaneum (79 AD, Central Italy), the authors focused on linear enamel hypoplasia (LEH) manifestations in order to delineate a possible correlation between their frequency and distribution and the earthquake that occurred in 62 AD, which is well documented in historical literature. The human remains from Herculaneum were buried at the same time as the Vesuvius eruption and represent an exceptional snapshot of life in the Roman Imperial Age. The Goodman and Rose method (1990) was used for attributing an "age at the moment of stress" for every skeleton in order to delineate the epidemiology of the enamel hypoplasia. When LEH frequency was analysed by age, two different age groups showed relevant patterns of hypoplasia: the first peak was evident in individuals between 14 and 20 years who were younger than 6 years at the time of the 62 AD earthquake, and a second peak was noted in adults of 30 +/- 5 years old, which suggests the presence of another stressful event that occurred 10 years before the earthquake, around 53 AD. The bimodal distribution of enamel hypoplasia could be the consequence of two different historical periods characterized by instability in the food supply, unhygienic conditions, and epidemic episodes; our data suggest that the first peak could be related to a decline in health status as an effect of the 62 AD earthquake. The relationship between recent natural disasters and variations in health status in modern populations is well documented in scientific literature. Our research represents the first attempt to correlate the status of health to an earthquake of known date in an archaeological population.

Environmental stress increases variability in the expression of dental cusps

Teeth are an important model for developmental studies but, despite an extensive literature on the genetics of dental development, little is known about the environmental influences on dental morphology. Here we test whether and to what extent the environment plays a role in producing morphological variation in human teeth. We selected a sample of modern human skulls and used dental enamel hypoplasia as an environmental stress marker to identify two groups with different stress levels, referred to as SG ("stressed" group) and NSG ("nonstressed" group). We collected data on the occurrence and the relative development of 15 morphological traits on upper molars using a standard methodology (ASU-DAS system) and then we compared the frequencies of the traits in the two groups. Overall, the results suggest that (a) stressors like malnutrition and/or systemic diseases have a significant effect on upper molar morphology; (b) stress generates a developmental response which increases the morphological variability of the SG; and (c) the increase in variability is directional, since individuals belonging to the SG have more developed and extra cusps. These results are consistent with the expectations of the current model of dental development.

A model for the molecular underpinnings of tooth defects in Axenfeld–Rieger syndrome

Patients with Axenfeld-Rieger Syndrome (ARS) present various dental abnormalities, including hypodontia, and enamel hypoplasia. ARS is genetically associated with mutations in the PITX2 gene, which encodes one of the earliest transcription factors to initiate tooth development. Thus, Pitx2 has long been considered as an upstream regulator of the transcriptional hierarchy in early tooth development. However, because Pitx2 is also a major regulator of later stages of tooth development, especially during amelogenesis, it is unclear how mutant forms cause ARS dental anomalies. In this report, we outline the transcriptional mechanism that is defective in ARS. We demonstrate that during normal tooth development Pitx2 activates Amelogenin (Amel) expression, whose product is required for enamel formation, and that this regulation is perturbed by missense PITX2 mutations found in ARS patients. We further show that Pitx2-mediated Amel activation is controlled by chromatin-associated factor Hmgn2, and that Hmgn2 prevents Pitx2 from efficiently binding to and activating the Amel promoter. Consistent with a physiological significance to this interaction, we show that K14-Hmgn2 transgenic mice display a severe loss of Amel expression on the labial side of the lower incisors, as well as enamel hypoplasia-consistent with the human ARS phenotype. Collectively, these findings define transcriptional mechanisms involved in normal tooth development and shed light on the molecular underpinnings of the enamel defect observed in ARS patients who carry PITX2 mutations. Moreover, our findings validate the etiology of the enamel defect in a novel mouse model of ARS.

Celiac disease

Celiac disease, with a prevalence around 1% of the general population, is the most common genetically-induced food intolerance in the world. Triggered by the ingestion of gluten in genetically predisposed individuals, this enteropathy may appear at any age, and is characterized by a wide variety of clinical signs and symptoms. Among them, gastrointestinal presentations include chronic diarrhea, abdominal pain, weight loss or failure to thrive in children; but extra-intestinal manifestations are also common, and actually appear to be on the rise. They include a large variety of ailments, such as dermatitis Herpetiformis, anemia, short stature, osteoporosis, arthritis, neurologic problems, unexplained elevation of transaminases, and even female infertility. For the clinician interested in oral diseases, celiac disease can lead to delayed tooth eruption, dental enamel hypoplasia, recurrent oral aphthae. Diagnosing celiac disease requires therefore a high degree of suspicion followed by a very sensitive screening test: serum levels of the autoantibody anti-tissue transglutaminase. A positive subject will then be confirmed by an intestinal biopsy, and will then be put on a strict gluten-free diet, that in most cases will bring a marked improvement of symptoms. Newer forms of treatment which in the future will probably be available to the non-responsive patients are currently being actively pursued.

Prevalence of dental anomalies and enamel hypoplasia in primary dentition among preschool children of West Godavari District, Andhra Pradesh -A cross - sectional study

Prevalence of dental anomalies and enamel hypoplasia in primary dentition among preschool children of West Godavari District, Andhra Pradesh -A cross - sectional study

Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity

Patients with autoimmune polyendocrine syndrome type 1 (APS-1) frequently have autoantibodies directed against the aromatic amino acid hydroxylases tryptophan hydroxylase (TPH) and tyrosine hydroxylase (TH). We aimed to characterize these autoantibodies with regard to their antigenic determinants, their influence on enzymatic activity and their clinical associations. In particular, we wanted to compare autoantibodies against the two different isoforms of TPH, which display different tissue distribution. Using sera from 48 Scandinavian APS-1 patients we identified 36 patients (75%) with antibodies against one or more of these three enzymes. Antibodies against TPH1, but not TPH2, were associated with malabsorption in the whole Scandinavian cohort, while TH antibodies were associated with dental enamel hypoplasia in Norwegian patients. Subsequent experiments with selected patient sera indicated that while the C-terminal domain was the immunodominant part of TPH1, the epitopes of TPH2 and TH were mainly located in the N-terminal regulatory domains. We also identified a TPH1 specific epitope involved in antibody mediated inhibition of enzyme activity, a finding that provides new insight into the enzymatic mechanisms of the aromatic amino acid hydroxylases and knowledge about structural determinants of enzyme autoantigens. In conclusion, TPH1, TPH2 and TH all have unique antigenic properties in spite of their structural similarity.

Skeletal and dental indicators of health in the late mediaeval (12–15th century) population from Nin, southern Croatia

A comprehensive bioarchaeological study of the late mediaeval (12–15th century) skeletal sample from Nin was carried out in order to test the historically documented hypothesis that during the late mediaeval period Nin sustained a period of rapid development that resulted in it becoming one of the major urban centres on the eastern Adriatic coast. The analysed pathological changes (alveolar bone disease, dental caries, dental enamel hypoplasia, cribra orbitalia, periostitis, tuberculosis, Schmorl's nodes, vertebral osteoarthritis, and bone fractures) indicate a relatively good quality of life for the majority of the population from this late mediaeval site. A low prevalence of dental pathologies suggests an adequate diet while a low frequency of long bone trauma testifies to a relatively peaceful life for the inhabitants of mediaeval Nin. Increased urban development during this period resulted in a worsening of sanitary conditions most likely caused by overcrowding, which is reflected in the presence of tuberculosis and the relatively high frequencies of dental enamel hypoplasia and cribra orbitalia. An additional health concern for the late mediaeval inhabitants of Nin may have been the presence of malaria, as recorded in numerous historical sources. Comparison with other Croatian mediaeval skeletal samples suggests that the inhabitants of late mediaeval Nin experienced somewhat better living conditions than their contemporaries from other parts of Croatia.

Diet and Oral Health of Populations that Inhabited Central Argentina (Córdoba Province) during Late Holocene

AbstractThe aim of this work is to study, from a bioarchaeological perspective, the diet and oral health of the populations that inhabited Central Argentina in two periods which would reflect changes in subsistence strategies: earlier late Holocene (ca. 2500–1500 years BP) and later late Holocene (ca.1500–400 years BP). The sample is composed by 83 adult individuals from 47 archaeological sites. We considered five non‐specific indicators of stress, infectious and degenerative diseases: hypoplasia of dental enamel, dental caries, abscesses, antemortem teeth loss, and calculus. We also considered hypercementosis, dens in dens, and agenesis. We test intraobserver error by means of intraclass correlation coefficient and analysis of variance of repeated measures. We calculated prevalence by sex, age, geographic subregion, and chronological period. We applied Chi‐square (X2) to test statistical significance of observed differences. Considering the sample as a whole, low prevalence of dental caries (10.27%), abscesses (16.52%), and hypoplasia (10.84%) are coincident with values observed for populations with mixed or hunter‐gathering subsistence strategy. In later late Holocene, high incidence of caries should be considered as indicator of consumption of C4 vegetables or other carbohydrate‐rich vegetables, such as legumes of Prosopis sp. Also, moderate values of dental enamel hypoplasia should be related with metabolic‐systemic stress episodes. Summarizing, these results are coincident with isotopic, archaeological, and ethnohistorical evidences which suggest climatic, social, and demographic pressures that might have affected the lifestyle of these populations before the Spanish conquest. Copyright © 2012 John Wiley &amp; Sons, Ltd.

Origin of celiac disease: how old are predisposing haplotypes?

We recently presented the case of a first century AD young woman, found in the archaeological site of Cosa, showing clinical signs of malnutrition, such as short height, osteoporosis, dental enamel hypoplasia and cribra orbitalia, indirect sign of anemia, all strongly suggestive for celiac disease (CD). However, whether these findings were actually associated to CD was not shown based on genetic parameters. To investigate her human leukocyte antigen (HLA) class II polymorphism, we extracted DNA from a bone sample and a tooth and genotyped HLA using three HLA-tagging single nucleotide polymorphisms for DQ8, DQ2.2 and DQ2.5, specifically associated to CD. She displayed HLA DQ 2.5, the haplotype associated to the highest risk of CD. This is the first report showing the presence of a HLA haplotype compatible for CD in archaeological specimens.