Oral health is impaired in X-linked hypophosphatemia (XLH), resulting in delayed dental development, malocclusion, and radiographic abnormalities. This study investigates the oral manifestations in ...Slovenian XLH patients, focusing on enamel and dentin abnormalities and a literature review of spontaneous periapical abscesses in XLH cases.
To report XLH patients with specific oral signs and symptoms, histological analysis of affected teeth, and review of reported cases of XLH patients with spontaneous periapical abscesses.
Case reports: Seven XLH patients from the National Registry of Patients with Rare Diseases underwent a detailed oral examination, including X-ray reviews. The patients who were expected to have tooth exfoliation or extraction were asked to donate their teeth for histological analysis by scanning electron microscopy.
A literature search of four electronic databases and a manual bibliography search aimed to identify documented cases of XLH with periapical abscesses up to January 21, 2024. Inclusion criteria were confirmed XLH patients with periapical abscesses in English peer-reviewed publications.
Tooth samples from three XLH patients showed reduced dentin mineralisation, affecting one-third to one-half of the outer dentin. Inadequate mineralisation, uneven dentin tubules, and cracks and chipping in the enamel were observed, indicating mineralisation deviations. Similar cracks extended into the dentin and were also present in the root of the examined tooth. Based on the content of the 75 items identified in the search, spontaneous abscesses are not uncommon in patients with XLH.
XLH significantly affects patients' lives and requires lifelong treatment. Dental examinations consistently revealed oral problems, including malocclusion. Histological analysis confirmed structural changes, especially in the dentin. Despite continued treatment, XLH patients may have an increased risk of oral pathologies. Further research is needed to understand the impact of XLH and its treatment on dental health.
•There is no clear evidence for a specific MIH aetiological factor.•Genetic variation may be an important contributing factor for MIH development.•The results of this study suggest that the rs2245803 ...variant of the MMP20 gene may influence the development of MIH.
The present study searched for evidence of possible associations between some genetic factors that could affect the development of molar–incisor hypomineralisation (MIH).
In 113 patients who were surgically treated at an Otorhinolaryngology and Cervicofacial Surgery Clinic (ORL) during early childhood, human leukocyte antigen (HLA) DQ2 and DQ8 haplotypes and single nucleotide polymorphisms (SNP) of eight amelogenesis-related genes were searched in genomic DNA. Genotypes were determined by high resolution melting (HRM), TaqMan genotyping assays, and Sanger sequencing. Association between MIH and the HLA DQ2 and DQ8 alleles was tested using a univariate logistic regression. The significance of genetic variants was analysed using the Cochran–Armitage tests for trend and the Fisher exact tests.
We identified MIH in 22 (19.5 %) of the 113 children. Among the evaluated genetic variants, SNP rs2245803 in the MMP20 gene in a homozygous form in a recessive model was associated with MIH development (OR, 2.796; 95 %CI, 1.075 − 4.783; p = 0.0496) with the genotype distribution of TT(3), TG(6) or GG(13) in children with MIH and distribution of TT(18), TG(42) or GG(31) in children without MIH.
While the aetiology of MIH remains unclear, our findings suggest that variants of genes associated with amelogenesis may play important roles in susceptibility to MIH.
ABSTRACT Introduction There has been no valid and reliable instrument available to measure the impact of oral health on the quality of life of Slovenian preschool children. The main aim of this study ...was to develop and evaluate the validity and reliability of the first Slovenian instrument assessing Oral Health-Related Quality of Life (OHRQoL) preschool children: the ECOHIS-SVN. Methods The ECOHIS-SVN was developed using forward-backward translations and with the participation of children aged under six and their parents. The children’s teeth were examined, and parents were asked to complete questionnaires, including the ECOHIS-SVN. The internal consistency of ECOHIS-SVN was evaluated through the calculation of Cronbach’s alpha (α), test-retest reliability with an intra-class-correlation coefficient (ICC), convergent validity with Spearman’s rank correlation (r) and criterion validity with the Mann-Whitney test. The association between the ECOHIS-SVN score and parents’ age, educational level, self-reported oral health and OHIP-SVN14 was estimated using multiple linear regression. Results In the study, 255 children participated, with a mean age of 4.8 years (±0.8). The ECOHIS-SVN questionnaire was completed by the parents of all 255 children and re-filled by 71 parents. The results of the total ECOHIS-SVN scale include α=0.85, ICC=0.85, and r=0.6-0.75. A statistically significant association was found between the ECOHIS-SVN and parents’ age and between the ECOHIS-SVN and parents’ OHIP-SVN14 in the whole group and in the subgroup of children with no teeth affected by cavitated caries (dmft=0) (p=0.025, p=0.028), respectively. Conclusion ECOHIS-SVN enables further studies to assess the OHRQoL of preschool children in the Slovenian-speaking population.
Introduction. In children and growing adolescents, ankylotic resorption (i.e., progressive replacement resorption) of a permanent tooth is a serious complication. An ankylosed tooth root is ...continuously resorbed and replaced with bone; normal growth of alveolar bone is disturbed and infraposition of the dental crown progresses. This article aims to present decoronation as a very good treatment option for permanent incisors diagnosed with progressive replacement resorption in children and adolescents. Case outline. A 9.5-year-old boy was referred with non-vital both upper central permanent incisors due to dental trauma. In the left one, which had been re-implanted 90 minutes after avulsion, progression of clinical and radiographic pathological signs of ankylotic resorption was observed over the months. To prevent the local arrest of alveolar ridge growth and tilting of adjacent teeth, we decoronated the ankylosed tooth. For aesthetic and functional rehabilitation adhesive bonding of his dental crown was performed. Conclusion. In growing individuals with progressive replacement resorption, a dentist should be aware of decoronation as an effective treatment option with a predictable outcome.
Molar-root incisor malformation (MRIM) is a novel dental phenotype likely related to a patient's past medical history. This case aimed to confirm MRIM by histological and scanning electron microscopy ...(SEM) examination for the first time in a patient diagnosed with autoimmune lymphoproliferative syndrome (ALPS) and to propose a possible link between ALPS and MRIM that could be attributable to abnormally proliferated bone marrow.
A 12.5-year-old boy with an extensive medical history, including diagnosis of ALPS, was examined clinically and radiologically to elucidate the reason for pain primarily originating from the area of the lower left permanent first molar tooth (PFM; tooth 36). Dental examination and radiographic survey revealed abnormal pulp cavity morphology of all four PFMs, and these were extracted, resolving the dental pain in the patient. The extracted PFMs were subjected to light microscopy, SEM evaluation and mineral density and elemental composition analyses. Histology of two PFMs revealed the presence of dentin-, bone- and cartilage-like tissues with abundant blood vessels occupying the majority of the pulp chamber. The root canals were obliterated with mineralized structures resembling pulp stones. Two different, highly mineralized abnormal tissues filling the majority of the pulp chamber revealed by SEM and confirming the diagnosis of MRIM displayed a mineral density and elemental composition similar to those of enamel and dentin, respectively.
It appears likely that in addition to the complex medical history during early childhood in the present case, extensive lymphoid infiltrates that are possible in ALPS patients can be regarded as a cofactor in the development of MRIM by exerting considerable pressure on the developing tooth bud and providing cells capable of differentiating into diverse cell types.
Introduction. Molar-incisor hypomineralization (MIH) is a developmental defect of dental enamel that affects one to all four first permanent molars (FPM) and frequently permanent incisors. Enamel ...aberrations are observed as demarcated opacities of different colors (from white to brown) and as posteruptive enamel breakdown. Clinically similar pathological signs can also be present in deciduous molars. Case outline. Histology of an FPM and a second deciduous molar was performed after extraction from two unrelated patients with MIH due to inflammatory complications. Tooth samples were analyzed using a stereomicroscope (SM), light microscope (LM), and scanning electron microscope (SEM). Enamel thickness of both affected teeth was normal. An obvious distinction in enamel microstructure was observed between the normally developed and the molar-incisor hypomineralized enamel with SM, LM, and SEM. Conclusion. In MIH patients, regular dental visits enable early diagnosis of the disease and appropriate treatment of the patient as soon as possible, with included preventive measures.
Fissure sealants are effective caries preventive measure. However, a dilemma has been expressed more than once, whether incompletely sealed fissures provides sufficient protection against caries. ...Dental examinations were performed in 88 children, aged 8 and then 4 years later at 12 years. All first permanent molars (FPMs), as diagnosed at the age of 8, were divided into three groups: nonsealed, incompletely and completely sealed. Four years later caries incidence and changes in presence and quality of fissure sealant were analyzed. At the age of 8 and 12 mean DMFT were 0.73 ± 1.24 and 3.48 ± 3.04, respectively. 71.59% of the 8‐year‐olds and 78.41% of the 12‐year‐olds had at least one sealed FPM. At the age of 8, 154 FPMs were completely sealed and 42 FPMs were incompletely sealed. Four years later, 81.17%, 71.43% and 69.4% of FPMs were healthy (sound or with noncavitated caries) in the baseline groups completely sealed, incompletely sealed and nonsealed FPMs, respectively. Incompletely sealed fissures were more susceptible to caries development than completely sealed fissures. It is important that incompletely sealed fissures are resealed as soon as possible.
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the AMELX gene. In this paper, we characterise the ...genetic aetiology and enamel histology of female AI patients from two unrelated families with similar clinical and radiographic findings. All three probands were carefully selected from 40 patients with AI. In probands from both families, scanning electron microscopy confirmed hypoplastic and hypomineralised enamel. A neonatal line separated prenatally and postnatally formed enamel of distinctly different mineralisation qualities. In both families, whole exome analysis revealed the intron variant NM_182680.1: c.103-3T>C, located three nucleotides before exon 4 of the AMELX gene. In family I, an additional variant, c.2363G>A, was found in exon 5 of the FAM83H gene. This report illustrates a variant in the AMELX gene that was not previously reported to be causative for AI as well as an additional variant in the FAM83H gene with probably limited clinical significance.
Periodontal disease is one of common oral manifestations in patients with Fanconi anemia (FA). The aim of the study was to evaluate the effect of photodynamic therapy (PDT) on periodontal clinical ...and microbial parameters in a patient with FA.
For a 16-year-old girl, diagnosed with having FA and periodontal disease, the protocol treatment with duration of 10 months was designed. Every 2 months, thorough oral cavity disinfection was followed by PDT, using photosensitizer phenothiazine chloride activated by a diode laser light. During each visit, periodontal parameters were evaluated: plaque index (PI), gingival index (GI), probing pocket depth (PPD), bleeding on probing (BOP), and clinical attachment level. Simultaneously, the presence of Candida albicans and of five periodontal pathogens was evaluated.
Clinical results showed improvement in GI, BOP, and PPD during this 10-month period. BOP subsequently reduced from 100% to 79%, 72%, and 60% at 6, 8, and 10 months, respectively. The proportion of sites with PPD of ≥4 mm decreased from 38.7% at the baseline to zero after 10 months. Further, all five bacterial species and C. albicans were reduced significantly.
PDT effectively influences periodontal healing and reduces periodontopathogenic bacteria without damaging the patient's tissues.
All children, who were born in 2004 and had undergone surgical treatment for recurrent acute tonsillitis and/or acute otitis media at the ear, nose and throat clinic (ENT) between 2004 and 2010, were ...called on dental examination and blood sampling. Out of 441 invitees, 113 children and their parents/legal guardians agreed to participate. The following data from this group of subjects are presented: the presence of clinical signs of molar–incisor hypomineralisation (MIH), the distribution of human leukocyte antigen (HLA) alleles DQ2 and DQ8 and eight single nucleotide polymorphisms (SNPs) located in amelogenesis-related genes (rs3796704 in the ENAM gene, rs546778141 in the AMBN gene, rs2106416 in the AMELX gene, rs7660807 and rs35286445 in the AMTN gene, rs4870723 in the COL14A1 gene, rs2245803 in the MMP20 gene, and rs3828054 in the TUFT1 gene).
Data on clinical signs of MIH were collected in accordance with the recommendation and on the proposed MIH clinical data recording sheet 1, and with appropriate preliminary training and calibration. Data on HLA DQ2 and DQ8 haplotypes and on SNPs of amelogenesis-related genes were obtained using DNA isolated from blood samples taken from subjects. The HLA DQ2 and DQ8 alleles were determined using the EliGene® Coeliac RT Kits (90,048-RT; Elisabeth Pharmacon spol. s.r.o., Brno-Židenice, Czech Republic) on a 7500 Fast RT-PCR System (Applied Biosystems, Waltham, MA, USA). The distributions of SNPs in the amelogenesis-related genes were determined using high resolution melting (HRM) using the Type-IT HRM Master Mix (Qiagen), TaqMan genotyping assays (ID: C__25766207_10; Thermo Fisher Scientific, Waltham, MA, USA) with the TaqMan Universal Master Mix II, or Sanger sequencing using sequencing master mix BigDye® Terminator v3.1 (Applied Biosystems) and ABI 3500 Genetic Analyser (Applied Biosystems).
L. Hočevar, J. Kovač, K. Trebušak Podkrajšek, S. Battelino, A. Pavlič, 2020. The possible influence of genetic aetiological factors on molar–incisor hypomineralisation, Arch. Oral. Biol. 118, 104848. https://doi.org/10.1016/j.archoralbio.2020.104848.