CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.

Neonatal ichthyosis and sclerosing cholangitis syndrome (NISCH), also known as ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC), is an extremely rare disease of autosomal recessive inheritance, resulting from loss of function of the tight junction protein claudin-1. Its clinical presentation is highly variable, and is characterized by liver and ectodermal involvement. Although most ILVASC cases described to date were attributed to homozygous truncating variants in CLDN1, a single missense variant CLDN1 p.Arg81His, associated with isolated skin ichthyosis phenotype, has been recently reported in a family of Moroccan Jewish descent. We now describe seven patients with ILVASC, originating from four non consanguineous families of North African Jewish ancestry (including one previously reported family), harboring CLDN1 p.Arg81His variant, and broaden the phenotypic spectrum attributed to this variant to include teeth, hair, and liver/bile duct involvement, characteristic of ILVASC. Furthermore, we provide additional evidence for pathogenicity of the CLDN1 p.Arg81His variant by transmission electron microscopy of the affected skin, revealing distorted tight junction architecture, and show through haplotype analysis in the vicinity of the CLDN1 gene, that this variant represents a founder variant in Jews of Moroccan descent with an estimated carrier frequency of 1:220.

The effect of Ekman-Westborg and Julin trait (generalized megadontia) and localized megadontia on tooth components size and ion content.

AIMS: The objective of this study is to compare size, enamel thickness and ion relative concentration in generalized megadontia (Ekman- Westborg and Julin trait) and a localized megadont upper third molar to normal teeth. MATERIALS AND METHODS: The MD dimensions of permanent teeth were compared to controls. Tooth components of molars were measured from X-rays and compared to controls. The enamel and dentin relative amounts of elements of mandibular first permanent molar and deciduous canines of E-WJ trait girl, and megadont upper third molar were determined using ESD program of SEM and compared to match-paired normal teeth. RESULTS: The teeth of the girl diagnosed with E-WJ trait were true megadont (larger than mean ± 2SD). The ratio of enamel thickness to M-D dimension of molars of E-WJ trait and localized megadontia molars is reduced in comparison with normal similar teeth. In the enamel, carbon and silica concentrations were different in E-WJ trait teeth. CONCLUSIONS: The enamel thickness was reduced in the E-WJ trait and megadont molars, but the relative amount of elements in enamel and dentin was similar to normal. The megadontia is due to a very large tooth germ, as determined by the DEJ, while the ratio of enamel apposition from the total M-D dimension is reduced. CLINICAL RELEVANCE: Generalized megadontia, as observed in E-WJ trait, is due to large tooth germ, but the enamel thickness is similar to normal. Extractions of permanent teeth are necessary in order to allow normal eruption of teeth.

Drinking Desalinated Water that Lack Calcium and Magnesium Has No Effect on Mineral Content of Enamel and Dentin in Primary Teeth.

Objective: The present study compared the mineral contents of enamel and dentin of primary teeth from children exposed to desalinated water with those from children drinking ground water. Study design: The study comprised of two groups of teeth, seven primary teeth from children living in areas supplied exclusively with desalinated water and seven primary teeth from children that have been exposed solely to ground water from in-utero until the teeth were either extracted or naturally shed. Mineral content of three tooth regions was determined by scanning electron microscopy with an energy dispersive X-ray spectrometer (EDS). The main ion content of each region was calculated. Results: Children exposed to ground water presented higher levels of magnesium in pre- and post- natal enamel than children living in areas supplied exclusively with desalinated water but without significant differences. The same was found for calcium levels. Excluding post-natal enamel calcium level (of borderline statistical significance), no significant differences were found in magnesium and calcium levels of primary teeth enamel and dentin of children exposed to desalinated water in comparison to children exposed to ground water. Conclusion: Mineral content of enamel and dentin in primary teeth is not affected by consuming desalinated water.

The influence of infantile thiamine deficiency on primary dentition.

OBJECTIVES: The present study explored the histological and chemical effects of infantile thiamine deficiency (ITD) on enamel development through the examination of exfoliated deciduous teeth from a patient who had been fed during his first year of life with a thiamine-deficient milk substitute. MATERIALS AND METHODS: Ground sections derived from six exfoliated primary teeth were examined. Slices from a light microscope were photographed for histological analysis. We calculated the time when the amelogenesis insults occurred, and the data were cross-examined with the patient's medical history. We then measured the enamel content of calcium, phosphate, oxygen, carbon, and magnesium on two lines from the dentino-enamel junction (DEJ) to the outer surface using an energy dispersive X-ray spectrometer. RESULTS: Carbon (organic matter) concentration in postnatal enamel was 2.37 times higher in ITD, phosphate levels were lower, and magnesium and calcium levels tended to be higher in ITD teeth. CONCLUSION: Chemical and histological analysis enabled us to confirm that thiamine deficiency in infancy impaired postnatal amelogenesis and resulted in less calcified enamel with a higher level of organic matter. Higher postnatal enamel carbon and magnesium concentration found in ITD may derive from either impaired mineralization caused by disturbed cellular metabolism or indirect damage to the ameloblasts due to the physical condition. Ca/P mean ratio in ITD teeth was higher than the mean ratio in the control displaying a damaged mineralization process. CLINICAL RELEVANCE: This is probably the first description of infantile thiamine deficiency effect on amelogenesis resulting in less calcified enamel.

[THE EFFECT OF DOWN SYNDROME ON TEETH AND JAWS DEVELOPMENT - THE FIRST CASE REPORT ON DENTAL IMPLANTS WITH 15 YEARS FOLLOW-UP].

INTRODUCTION: Down syndrome presents dentists with several treatment problems due to hereditary olygodontia of permanent teeth, abnormal development of the midface causing small maxilla and class III occlusion, abnormal mineralization of teeth, reduced bone density and hypotony. The challenge of replacing missing permanent teeth was the trigger for the development of dental implants some 30 years ago. However, the abnormal development of jaw bones and the reverse occlusion caused concerns in the dental community regarding the possibility of using dental implants in Down syndrome patients. In 1999 the dental team of Barzilai Medical Center was the first to insert dental implants in a Down syndrome adolescent in order to replace 4 missing premolars. One implant was lost during the healing process, and the other 3 were followed for 15 years. One of the most important factors affecting implant success is gingival health. Periodontitis affects bone height and retention of the implant. Our patient was observed in the dental clinic every 3 months for the last 15 years for plaque and calculus control. The close follow-up and treatment kept the alveolar bone healthy and at the same height as at the beginning. This case report is unique since it is the first of its kind with a 15 year follow-up. Furthermore, it showed that frequent visits and control of gingival health keeps the bone healthy and at the same height as at the beginning.

A retrospective cohort study of pediatric hospitalization due to dentoalveolar infection before and after a change in national health insurance.

This retrospective cohort study aimed to examine trends in pediatric (0-18 years old) hospitalizations due to dentoalveolar infection, before and after the inclusion of pediatric dental care in Israel's National Health Insurance Law. Data were collected from the medical records of one oral and maxillofacial surgery department. Data were compared between patients hospitalized during 2002-2010 (group A, n = 531) and 2011-2019 (group B, n = 381). The mean age of the cohort was 8 years. A dentoalveolar abscess was the main cause of hospitalizations in both groups. Group B exhibited a higher rate of previous dental treatment in general (p = 0.001), and of previous dental treatment for the tooth responsible for the infection (p = 0.03). The prevalent treatment during hospitalization combined intravenous antibiotics and extraction, with or without drainage (58.1%) for group A; and intravenous antibiotics and drainage (49.4%) for group B (p < 0.01). Dental care provided by the Israel's National Health Insurance should focus not only on operative treatment but also on oral health promotion and caries prevention, to reduce hospitalizations due to dentoalveolar infections.

Supernumerary roots in maxillary deciduous canines: A rare anomaly with a long history.

OBJECTIVE: To describe two maxillary deciduous bi-rooted canines, one archeological and one modern, and examine the possible etiology of this condition. DESIGN: Two cases of bi-rooted canines were described and compared to published examples. Both specimens were radiographed and measured and compared to one-rooted samples. The archeological specimen was scanned using CBCT to facilitate detailed examination of the deciduous teeth. The extracted modern tooth was embedded in epoxy resin and two coronal sections were cut, one through the crown and one through the roots and examined with a light microscope. RESULTS: The bi-rooted canines were larger than the control samples. They showed none of the features commonly associated with gemination. The radiographs and scans showed that the canine roots in the archeological case diverged mesio-distally like the buccal roots in the adjacent first deciduous molar. In the clinical case, the root trunk was elongated mesio-distally and the furcation was located very close to the apex with a C-shaped root canal. CONCLUSIONS: Both variants of the condition described above are rare in deciduous canines. They do not seem to be associated with fusion or gemination. However, as the teeth are relatively flattened bucco-lingually and we tentatively propose that this form results from spatial constraints during the early stages of crown development that have contributed to the development of additional roots. The megadont dimension of the recent bi-rooted deciduous canine may affect root development and the necessity of two mesio-distally located roots for anchorage in the maxilla.

The effect of Angelman syndrome on enamel and dentin mineralization.

AIMS: To analyze the mineralization and ion content in deciduous, permanent teeth of Angelman syndrome in comparison to match-paired teeth from normal children. METHODS: Three deciduous teeth and a third molar and a mesiodens extracted during routine dental treatment and their match-paired normal teeth were examined using energy dispersive X-ray spectrometer program under a scanning electron microscope. RESULTS: The morphology of the enamel and dentin of Angelman syndrome (AS) teeth was similar to normal but the thickness of the enamel of deciduous canine and permanent teeth was reduced. The most marked differences were found in the enamel-in AS teeth, the enamel contained nitrogen in concentrations similar to dentin, implicating that the protein content of the enamel is different from normal teeth where nitrogen is absent. CONCLUSIONS: AS affects morphology and mineralization of enamel. It caused hypoplastic enamel and abnormal protein content in comparison to match-paired normal teeth. These findings show that AS also affects odontogenesis in addition to the known oral motor challenges.

Microhardness of three glass-ionomer cements during setting and up to 15 days in vitro, and after 5 to 10 years in vivo.

OBJECTIVES: To compare the microhardness and ion content of three glass-ionomer cements (GICs) during setting and up to 15 days, to composite resin-based material in vitro, and after 5 to 10 years in vivo. METHOD AND MATERIALS: Disks of three GICs, EQUIA Fil, Riva Self Cure, and Ketac Molar were examined in vitro for microhardness using Vickers indentations after 15 to 60 minutes, 24 hours, and 8 and 15 days, and compared to composite material, Spectrum. The ion content of the GIC and composite was analyzed using the energy dispersive spectroscopy program of a scanning electron microscope. A primary second molar restored with GIC normally exfoliated after 5 years, and a third molar restored with GIC extracted due to periodontitis after 10 years, were sliced through the restoration buccolingually, and the microhardness of the restoration and of the dentin was measured. RESULTS: In comparison to composite material, the Vickers value for the GICs were similar or better after 24 hours to 15 days. The amount of fluorine was three times higher in EQUIA Fil and Riva Self Cure in comparison with Ketac Molar, after 20 days. After 5 years in vivo, the microhardness of GICs was similar to dentin and after 10 years it was significantly higher than that of the dentin. CONCLUSION: The microhardness of GICs was comparable to composite material after only 24 hours. In vivo the microhardness of GICs increased and after 10 years in vivo it was higher than that of the dentin. After 20 days the amount of fluorine was still high in Riva Self Cure and EQUIA Fil.

A 3000 year old case of an unusual dental lesion: Pre-eruptive intracoronal resorption.

OBJECTIVE: To determine the cause of a large dental lesion, tentatively identified as a case of pre-eruptive intra-coronal resorption (PEIR), in the permanent second mandibular molar of a young individual from an Iron Age cemetery at Tel Erani (Israel), dated to ca. 3000 years B.P. The provisional diagnosis was based on the massive size of the lesion in a young individual in whom the adjacent teeth were caries-free and showed no visible enamel defects. DESIGN: The lower molars of Tel Erani on the affected side were radiographed and compared to radiographs of a modern clinical case of PEIR treated by one of us (U.Z) and the internal structure and mineral content of the lesion examined in detail using energy-dispersive X-ray spectroscopy (EDS). RESULTS: The Tel Erani specimen closely resembled the modern clinical case of PEIR. Moreover, both cases occurred in young individuals in whom the adjacent teeth were caries-free. Examination with SEM revealed absence of dentine in the affected tooth from Tel Erani, together with changes in structure and mineral content characteristic of resorption. CONCLUSIONS: Our study shows that the changes found in the lower second molar of the 3000 year old mandible from Tel Erani are characteristic of PEIR and demonstrate the antiquity of this condition.

The effect of cerebral palsy on neonatal line thickness and enamel components.

OBJECTIVE: The aim of the study was to compare the neonatal line width as well as the composition of the pre-natal and post-natal enamel in deciduous teeth of children with cerebral palsy (CP) to deciduous teeth of healthy children. DESIGN: 58 extracted or normally exfoliated deciduous teeth were collected for the study, 29 teeth from children with cerebral palsy and 29 pair matched teeth from healthy children who served as controls. The teeth were cut along the bucco-lingual/palatal axis and polished up to a thickness of 50-100 microns. The sections were examined using a light microscope and scanning electron microscope (SEM). The neonatal line was identified in 25 teeth and measured in width and the enamel concentrations of calcium, phosphorus, silicon, magnesium, sodium, oxygen, and carbon were measured in the pre-natal and post-natal enamel using ESD program. RESULTS: The neonatal line was significantly narrower in the deciduous teeth collected from children with cerebral palsy. In both groups, the concentration of magnesium and sodium in the pre-natal enamel was significantly higher than in the post-natal enamel. Magnesium and sodium levels were significantly higher in pre-natal enamel in the CP group compared to the pre-natal enamel of the control group. CONCLUSIONS: The neonatal line was narrower in the deciduous teeth collected from children with cerebral palsy than in those collected from healthy children. Children with cerebral palsy have a higher concentration of magnesium and sodium in the enamel that developed before birth.

Maxillary deformity following CPAP treatment in myasthenia gravis.

OBJECTIVE: Patients with Myasthenia gravis (MG) are characterized by muscle weakness that may cause obstructive sleep apnea (OSA). The use of a continuous positive airway pressure (CPAP) device is often needed in order to maintain free breathing during the night and sometimes even during the day. CLINICAL PRESENTATION: A 29-year-old MG patient is presented who used a CPAP continuously since the age of 12. Tight fitting of a nasal mask applied enough force to cause severe maxillary deformity. CLINICAL RELEVANCE: Masks with additional forehead and chin support or a regular full face mask are recommended for patients with muscle weakness, in order to spread forces more evenly.

Prenatal growth acceleration in maxillary deciduous canines of children with Down syndrome: histological and chemical composition study.

Previous studies have reported that the abnormal development of the second deciduous molar in Down syndrome and cerebral palsy begins before birth. In view of these results we have turned our attention to the earlier stages of dental development in utero, represented by the primary canine, in order to see if we can identify more precisely the origin and timing of developmental insults in these conditions. The study was carried out on exfoliated or extracted maxillary primary canines of children with Down syndrome (DS) and cerebral palsy (CP) and they were compared to a control group of children with no adverse medical history. Thin sections were made through the mid-sagittal bucco-palatinal axis. Using a light microscope, the width of prenatal enamel and postnatal enamel, defined by the neonatal line was measured on each section at a standardized location. The chemical composition of the enamel was then measured at three different locations using an energy dispersive spectrophotometer (ESR) in a high vacuum mode. The total enamel width in DS and controls was similar and greater than that of CP canines. Significantly more enamel was laid down prenatally in DS teeth than in controls or CP and it was more highly mineralized. These results for DS canines differ from those previously published for the later developing second primary molars. They support the hypothesis of accelerated growth in the early stages of intra-uterine development, prior to the establishment of reduced growth trajectories in the later stages. The results for CP teeth showed that more prenatal enamel was laid down prenatally than in controls. Mineralization in CP was poor during the first two trimesters and improved significantly during the last trimester. While this approach is retrospective, we propose that it may aid in identifying the onset of developmental anomalies of unknown etiology that are expressed in later life.

Diagnosis and Management of Hidden Caries in a Primary Molar Tooth.

Hidden caries is a dentinal lesion beneath the dentinoenamel junction, visible on radiographs. A single report described this lesion in primary dentition. This case report describes a case of hidden caries in a mandibular second primary molar, misdiagnosed as malignant swelling. A 3-year-old white girl was referred to the Department of Pediatric Dentistry with a chief complaint of pain and extraoral swelling on the right side of the mandible for the last 3 months. She was earlier referred to the surgical department for biopsy of the lesion. Radiographic and computed tomography scan examination showed a periapical lesion with buccal plate resorption and radiolucency beneath the enamel on the mesial part of tooth 85. The tooth was extracted, and follow-up of 2 years showed normal development of tooth 45. The main problem is early detection and treatment, since the outer surface of enamel may appear intact on tactile examination. HOW TO CITE THIS ARTICLE: Gera A, Zilberman U. Diagnosis and Management of Hidden Caries in a Primary Molar Tooth. Int J Clin Pediatr Dent 2017;10(1):99-102.

Long-term in-vivo effect of various restorative materials on enamel and dentin of primary molars.

OBJECTIVE: To explore the long-term in-vivo effect of different dental restorative materials on the surrounding enamel and dentin, in primary molars. METHOD AND MATERIALS: Sixteen naturally exfoliated primary molars restored with amalgam, compomer, and glass-ionomer cement were collected after 2 to 5 years of function in the mouth. Four intact molars served as control. The teeth were sliced buccolingually and the ion content in the restorative material, the enamel, and the dentin surrounding the restoration was determined using a scanning electron microscopy-energy dispersive x-ray spectroscopy (SEM-EDS) program. RESULTS: Amalgam released copper to the enamel and dentin causing a bluish discoloration. No traces of mercury or other ions were detected in the enamel or dentin. The enamel and dentin surrounding the restoration showed reduced inorganic components and increased organic components. The enamel and dentin surrounding the compomer restoration showed similar to amalgam reduction in inorganic components and increased organic components. Traces of fluoride, aluminum, and silicon were found. The enamel and dentin of teeth restored with glass-ionomer cement showed the least reduction in inorganic components, with higher fluoride content and traces of aluminum, silicon, and strontium. CONCLUSION: This long-term in-vivo study showed release of copper ions from amalgam material to the enamel and dentin, but no traces of mercury. Amalgam and compomers showed no remineralization effect on the dentin surrounding the restoration. Glass-ionomer restorations showed remineralization effect on the tooth components and migration of inorganic ions from the enamel and dentin to the material.

Pediatric sleep-disordered breathing: Role of the dentist.

OBJECTIVE: In this review article, the role of the dentist in the evaluation and treatment of snoring and Obstructive Sleep Apnea Syndrome (OSAS) in children is described. Snoring and OSAS in children is receiving increased awareness, with reported rates approximating 10% of children who regularly snore, and up to 4% who suffer from OSAS. OSAS in children may have serious developmental and behavioral consequences. Apnea Hypopnea Index (AHI) is the main outcome of the polysomnography test, but its diagnostic values differ from children to adults, as do treatment approaches. DATA SOURCES AND STUDY SELECTION: A comprehensive literature search of publications from 1973 to 2017 in the PubMed Direct databases was performed to collect information about snoring and OSAS in children. The search was limited to peer-reviewed articles written in English with a few exceptions in other languages. CONCLUSION: Dentists play a significant role in early detection of OSAS, helping in reducing and preventing its serious consequences. A multidisciplinary treatment team, which manages and treats OSAS, should include the dentist in addition to the sleep specialist and the ENT physician.

Microstructure and chemical composition of primary teeth in children with Down syndrome and cerebral palsy.

This study was designed to test the hypothesis that prenatal growth insults leave permanent signs in the developing primary teeth that can be identified in later life. To test this hypothesis we examined exfoliated and extracted lower second primary molars of children with Down syndrome (DS) and cerebral palsy (CP). Teeth of children with no adverse medical history were used as a control group. Informed consent of parents and children was obtained in all cases. On each tooth two thin sections were cut, one bisecting the mesial cusps and one bisecting the distal cusps. Using a light microscope, the width of prenatal enamel and postnatal enamel was measured on each section at standardized locations from the dentin-enamel junction (DEJ) with the neonatal line used to distinguish between prenatal and postnatal enamel. Chemical analysis of each section was carried out using an energy dispersive spectrophotometer (ESR). The Ca/P ratios of enamel and dentin for each cusp were calculated and intercusp and intergroup differences analysed using non-parametric statistical tests. The results showed that significantly less enamel was laid down prenatally in DS and CP teeth than in the control group and that the enamel of the mesial cusps in these groups was less highly mineralised than that of the controls. The results also showed that in DS teeth growth and mineralisation of all cusps was affected. Based on these findings we propose that analysis of exfoliated deciduous teeth in developmentally challenged children may help in identifying the onset and severity of growth insults in utero and its impact on later development.

The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?

BACKGROUND: Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of metabolism due to reduced catalytic activity of the different sulfatase. Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and skin changes as in X-linked ichthyosis. The only organ that was not examined in MSD patients is the dentition. OBJECTIVES: To evaluate the effect of the metabolic error on dental development in a patient with the intermediate severe late-infantile form of MSD (S155P). METHODS: Histological and chemical study were performed on three deciduous and five permanent teeth from MSD patient and pair-matched normal patients. RESULTS: Tooth germ size and enamel thickness were reduced in both deciduous and permanent MSD teeth, and the scalloping feature of the DEJ was missing in MSD teeth causing enamel to break off from the dentin. The mineral components in the enamel and dentin were different. CONCLUSIONS: The metabolic error insults the teeth in the stage of organogenesis in both the deciduous and permanent dentition. The end result is teeth with very sharp cusp tips, thin hypomineralized enamel, and exposed dentin due to the break off of enamel. These findings are different from all other types of MPS syndromes.Clinically the phenotype of intermediate severe late-infantile form of MSD appeared during the third year of life. In children of parents that are carriers, we can diagnose the disease as early as birth using X-ray radiograph of the anterior upper region or as early as 6-8 months when the first deciduous tooth erupt and consider very early treatment to ameliorate the symptoms.

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

OBJECTIVE: To relate the peculiar phenotype of amelogenesis imperfecta in a large Bedouin family to the genotype determined by whole genome linkage analysis. DESIGN: Amelogenesis imperfecta (AI) is a broad group of inherited pathologies affecting enamel formation, characterized by variability in phenotypes, causing mutations and modes of inheritance. Autosomal recessive or compound heterozygous mutations in FAM20A, encoding sequence similarity 20, member A, have been shown to cause several AI phenotypes. Five members from a large consanguineous Bedouin family presented with hypoplastic amelogenesis imperfecta with unerupted and resorbed permanent molars. Following Soroka Medical Center IRB approval and informed consent, blood samples were obtained from six affected offspring, five obligatory carriers and two unaffected siblings. Whole genome linkage analysis was performed followed by Sanger sequencing of FAM20A. RESULTS: The sequencing unravelled a novel homozygous deletion mutation in exon 11 (c.1523delC), predicted to insert a premature stop codon (p.Thr508Lysfs*6). CONCLUSIONS: We provide an interesting case of novel mutation in this rare disorder, in which the affected kindred is unique in the large number of family members sharing a similar phenotype.

New approach to quantifying developmental variation in the dentition using serial microtomographic imaging.

Dental morphogenesis and cellular differentiation are expressed in the fully formed tooth by the topography of the dentin-enamel junction and outer enamel surface. These boundaries can be differentiated using a variety of imaging systems. In this study, we used serial microCT imaging to provide accurate 3D reconstructions of developing lower human second deciduous molars. These were used to quantify the volume of enamel and dentin of individual cusps in relation to basal crown height. As growth and differentiation proceed apically, the spatial orientation of cusp tips and their bases were used to estimate their order of initiation and coalescence. We found that the order of coalescence differed from the order of initiation. We also found that dentin cusp height and volume as well as rate and quantity of enamel apposition varied along mesio-distal and bucco-lingual axes, and were independent of order of initiation and duration of growth. These results demonstrate that the potential for variation in crown size and form is maintained throughout development. We propose that the microCT model developed in this study constitutes a new approach for the investigation of developmental variation and its contribution to phylogenetic variation expressed in crown form and size.