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Cureus Nov 2023This clinical case report presents the prosthetic rehabilitation of a 23-year-old male patient with generalized discolored and worn-out teeth, which were of aesthetic...
This clinical case report presents the prosthetic rehabilitation of a 23-year-old male patient with generalized discolored and worn-out teeth, which were of aesthetic and functional concern. In collaboration with the Department of Oral Medicine and Radiology and Oral Pathology, this clinical condition was diagnosed as amelogenesis imperfecta (AGI). AGI is a genetic odontological disorder that is an epithelial derivative of the developed tooth bud with enamel malformation. AGI typically affects both deciduous and permanent teeth. Patients generally have aesthetic complaints and compromised chewing efficiency with loss of vertical dimension. Prosthetically rehabilitating an AGI patient is a multidisciplinary approach to regain aesthetics, phonetics, and mastication. This article describes the full mouth rehabilitation, following the Pankey Mann Schuyler philosophy, of the patient with AGI involving all teeth. Full mouth rehabilitation was planned to restore aesthetics, phonetics, and mastication in four phases. First was prosthetic rehabilitation of the mandibular anterior teeth, followed by the maxillary anterior, mandibular posterior, and, finally, maxillary posterior teeth.
PubMed: 38073947
DOI: 10.7759/cureus.48395 -
Journal of Endodontics Jul 2024Regional odontodysplasia (ROD) is a rare developmental disorder characterized by hypo-mineralization and hypoplasia of enamel and dentin. Symptoms include poorly...
INTRODUCTION
Regional odontodysplasia (ROD) is a rare developmental disorder characterized by hypo-mineralization and hypoplasia of enamel and dentin. Symptoms include poorly developed tooth buds, delayed eruption of permanent teeth in affected quadrants, and ghost teeth. The affected teeth often become necrotic due to abnormal enamel and dentin development, making them susceptible to caries and infection. The aim of this case report is to describe the treatment of ROD through pulp revascularization.
CASE REPORT
A 13-year-old girl was referred for endodontic treatment. The mandibular left incisors and first premolar, which were affected by regional odontodysplasia, lost their vitality because of the impaired structure of the enamel. Due to the teeth's early developmental stage, a regenerative endodontic treatment was attempted. All 3 teeth were treated using the same protocol following the AAE guidelines. After 4 weeks, treatment of the premolar was completed, whereas the incisor teeth remained symptomatic and were and therefore, intracanal dressing with calcium hydroxide was repeated and left in place for 5 months. Finally, the regenerative procedure was completed, and the crowns were restored. The patient was scheduled for follow-up examinations after 6 months, and then yearly for the next 3 years. After 1 year, the periapical lesion around the central incisor and premolar had resolved, the lesion around the apex of the lateral incisor was healing, and the roots had continued to develop. After 3 years, complete healing and pulp canal obliteration were observed in the central incisor and in the premolar. However, the root of the lateral incisor tooth was split, and it was recommended to extract this tooth.
CONCLUSION
The positive outcomes of regenerative endodontics in the central incisor and premolar suggest that revascularization of the pulp may be optional for the treatment of immature necrotic teeth affected by developmental disorders, such as ROD, amelogenesis imperfecta, or dentinogenesis imperfecta.
Topics: Humans; Adolescent; Female; Regenerative Endodontics; Odontodysplasia; Incisor; Bicuspid; Root Canal Therapy; Dental Pulp Necrosis
PubMed: 38626857
DOI: 10.1016/j.joen.2024.04.006 -
Iranian Journal of Biotechnology Oct 2023Dental enamel formation is a complex process that is regulated by various genes. One such gene, Family With Sequence Similarity 83 Member H (Fam83h), has been identified...
BACKGROUND
Dental enamel formation is a complex process that is regulated by various genes. One such gene, Family With Sequence Similarity 83 Member H (Fam83h), has been identified as an essential factor for dental enamel formation. Additionally, Fam83h has been found to be potentially linked to the Wnt/β-catenin pathway.
OBJECTIVES
This study aimed to investigate the effects of the Fam83h knockout gene on mineralization and formation of teeth, along with mediators of the Wnt/β-catenin pathway as a development aspect in mice.
MATERIALS AND METHODS
To confirm the Fam83h-KnockOut mice, both Sanger sequencing and Western blot methods were used. then used qPCR to measure the expression levels of genes related to tooth mineralization and formation of dental root, including Fam20a, Dspp, Dmp1, Enam, Ambn, Sppl2a, Mmp20, and Wnt/β-catenin pathway mediators, in both the Fam83h-Knockout and wild-type mice at 5, 11 and 18 days of age. also the expression level of Fgf10 and mediators of the Wnt/β-catenin pathway was measured in the skin of both Knockout and wild-type mice using qPCR. A histological assessment was then performed to further investigate the results.
RESULTS
A significant reduction in the expression levels of Ambn, Mmp20, Dspp, and Fgf10 in the dental root of Fam83h-Knockout mice compared to their wild-type counterparts was demonstrated by our results, indicating potential disruptions in tooth development. Significant down-regulation of CK1a, CK1e, and β-catenin in the dental root of Fam83h-Knockout mice was associated with a reduction in mineralization and formation-related gene. Additionally, the skin analysis of Fam83h-Knockout mice revealed reduced levels of Fgf10, CK1a, CK1e, and β-catenin. Further histological assessment confirmed that the concurrent reduction of Fgf10 expression level and Wnt/β-catenin genes were associated with alterations in hair follicle maturation.
CONCLUSIONS
The concurrent reduction in the expression level of both Wnt/β-catenin mediators and mineralization-related genes, resulting in the disruption of dental mineralization and formation, was caused by the deficiency of Fam83h. Our findings suggest a cumulative effect and multi-factorial interplay between Fam83h, Wnt/Β-Catenin signaling, and dental mineralization-related genes subsequently, during the dental formation process.
PubMed: 38269199
DOI: 10.30498/ijb.2023.391902.3673 -
Cureus Feb 2024This clinical case report details the comprehensive diagnosis and dental management of a seven-year-old female patient diagnosed with the rare genetic disorder,...
This clinical case report details the comprehensive diagnosis and dental management of a seven-year-old female patient diagnosed with the rare genetic disorder, amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS). The case initially presented as congenital adrenal hyperplasia and amelogenesis imperfecta, but further genetic analysis revealed the involvement of AIGFS due to a mutation in the gene. Diagnosis, confirmed through whole exome sequencing, clinical assessment, and laboratory tests, necessitated a multidisciplinary approach to address the treatment of such cases. The article underscores the critical importance of diagnosing and managing dental manifestations in pediatric patients with complex genetic conditions, highlighting the difficulties of treating AIGFS in mixed dentition. This case also highlights the indispensable role of pediatric dentists in diagnosing and treating these cases, ultimately improving the quality of life for individuals with AIGFS.
PubMed: 38465125
DOI: 10.7759/cureus.53787 -
L' Orthodontie Francaise Nov 2023Bonding to enamel is a daily problem for the orthodontist. While bonding to healthy enamel is nowadays well mastered, bonding to hypomineralized enamel is much less so....
INTRODUCTION
Bonding to enamel is a daily problem for the orthodontist. While bonding to healthy enamel is nowadays well mastered, bonding to hypomineralized enamel is much less so. The aim of this article was to help the orthodontist to optimise bonding, whatever the clinical situation.
MATERIAL AND METHOD
Based on data from the literature, the clinical and microscopic characteristics of healthy and hypomineralised enamel, including amelogenesis imperfecta (AI), molar incisor hypomineralization (MIH), fluorosis or erosion will be described. Proposals for optimising bonding will then be identified and summarized.
RESULTS
Bonding to enamel is reliable, but the use of an etch-and-rinse mode (even with a universal adhesive) is recommended. For AI, MIH and fluorosis, the use of sodium hypochlorite after etching seems to significantly increase bonding. No treatment is needed for eroded enamel. However, deep resin infiltration for severe MIH or superficial resin infiltration for fluorosis would reduce the risk of enamel fracture during bracket removal.
CONCLUSION
It is important to be aware of the characteristics of the dental substrate and the materials used to optimize procedures.
Topics: Humans; Dental Care; Orthodontists; Dental Enamel; Fluorosis, Dental; Amelogenesis Imperfecta; Fluoride Poisoning; Molar Hypomineralization
PubMed: 37930347
DOI: 10.1684/orthodfr.2023.137 -
Archives of Oral Biology Sep 2024This study aimed to reveal the effects of SET domain bifurcated 1 (SETDB1) on epithelial cells during tooth development.
OBJECTIVE
This study aimed to reveal the effects of SET domain bifurcated 1 (SETDB1) on epithelial cells during tooth development.
DESIGN
We generated conditional knockout mice (Setdb1 mice), in which Setdb1 was deleted only in epithelial cells. At embryonic day 14.5 (E14.5), immunofluorescence staining was performed to confirm the absence of SETDB1 within the epithelium of tooth embryos from Setdb1 mice. Mouse embryos were harvested after reaching embryonic day 13.5 (E13.5), and sections were prepared for histological analysis. To observe tooth morphology in detail, electron microscopy and micro-CT analysis were performed at postnatal months 1 (P1M) and 6 (P6M). Tooth embryos were harvested from postnatal day 7 (P7) mice, and the epithelial components of the tooth embryos were isolated and examined using quantitative RT-PCR for the expression of genes involved in tooth development.
RESULTS
Setdb1 mice exhibited enamel hypoplasia, brittle and fragile dentition, and significant abrasion. Coronal sections displayed abnormal ameloblast development, including immature polarization, and a thin enamel layer that detached from the dentinoenamel junction at P7. Electron microscopic analysis revealed characteristic findings such as an uneven surface and the absence of an enamel prism. The expression of Msx2, Amelogenin (Amelx), Ameloblastin (Ambn), and Enamelin (Enam) was significantly downregulated in the epithelial components of tooth germs in Setdb1 mice.
CONCLUSIONS
These results indicate that SETDB1 in epithelial cells is important for tooth development and clarify the relationship between the epigenetic regulation of SETDB1 and amelogenesis imperfecta for the first time.
Topics: Animals; Mice; Histone-Lysine N-Methyltransferase; Epithelial Cells; Mice, Knockout; Odontogenesis; Amelogenin; X-Ray Microtomography; Ameloblasts; Dental Enamel; Tooth; Microscopy, Electron; Real-Time Polymerase Chain Reaction
PubMed: 38875772
DOI: 10.1016/j.archoralbio.2024.106026 -
Frontiers in Oral Health 2023Enamel Renal Syndrome (ERS) (OMIM # 204690) is a rare genetic condition characterised by hypoplastic amelogenesis imperfecta, failed tooth eruption, intra-pulpal...
Enamel Renal Syndrome (ERS) (OMIM # 204690) is a rare genetic condition characterised by hypoplastic amelogenesis imperfecta, failed tooth eruption, intra-pulpal calcifications, gingival enlargement and occasionally nephrocalcinosis. In this case series, we report on four unrelated patients with a confirmed molecular diagnosis of ERS ( pathogenic variants) from Sub-Saharan Africa. The pathognomonic oral profile of ERS was mostly fulfilled in these patients, with the notable addition of an odontoma in one patient. The cases presented a spectrum of phenotypic severity both dentally and systemically. One patient presented with nephrocalcinosis and abnormal kidney function, one had reduced kidney size with normal kidney function, and two had no renal abnormalities. Patients presenting with the oral profile of ERS should receive a prompt referral to a nephrologist and a geneticist. They should receive long-term management from a multidisciplinary medical and dental team.
PubMed: 37675434
DOI: 10.3389/froh.2023.1228760 -
BMJ Case Reports Apr 2024Heimler Syndrome 2 (HS-2) is a rare, autosomal recessive mild form of a peroxisomal biogenesis disorder. Though knowledge regarding the disorder is limited, emerging...
Heimler Syndrome 2 (HS-2) is a rare, autosomal recessive mild form of a peroxisomal biogenesis disorder. Though knowledge regarding the disorder is limited, emerging research has found that sensorineural hearing loss, occasional or late onset pigmentation, amelogenesis imperfecta and nail abnormalities are clinical characteristics representative of HS-2.A school-aged male presented to the dental department with a chief complaint of a lack of enamel on multiple teeth. The patient's medical history was significant for patent ductus arteriosus, bilateral sensorineural hearing loss and biallelic mutation of the PEX6 gene. The clinical exam revealed dental crowding, hypoplasia, hypo-calcification of multiple teeth and enlarged pulp chambers of maxillary molars. This case report details the clinical findings associated with HS-2, the comprehensive dental treatment to be rendered to the patient, and critical information to paediatric dentists and general dentists so that they can make proper referrals to medical specialties.
Topics: Humans; Male; Child; Hearing Loss, Sensorineural
PubMed: 38663901
DOI: 10.1136/bcr-2023-257354 -
Scientific Reports Apr 2024Raine syndrome (RNS) is a rare autosomal recessive osteosclerotic dysplasia. RNS is caused by loss-of-function disease-causative variants of the FAM20C gene that encodes...
Raine syndrome (RNS) is a rare autosomal recessive osteosclerotic dysplasia. RNS is caused by loss-of-function disease-causative variants of the FAM20C gene that encodes a kinase that phosphorylates most of the secreted proteins found in the body fluids and extracellular matrix. The most common RNS clinical features are generalized osteosclerosis, facial dysmorphism, intracerebral calcifications and respiratory defects. In non-lethal RNS forms, oral traits include a well-studied hypoplastic amelogenesis imperfecta (AI) and a much less characterized gingival phenotype. We used immunomorphological, biochemical, and siRNA approaches to analyze gingival tissues and primary cultures of gingival fibroblasts of two unrelated, previously reported RNS patients. We showed that fibrosis, pathological gingival calcifications and increased expression of various profibrotic and pro-osteogenic proteins such as POSTN, SPARC and VIM were common findings. Proteomic analysis of differentially expressed proteins demonstrated that proteins involved in extracellular matrix (ECM) regulation and related to the TGFβ/SMAD signaling pathway were increased. Functional analyses confirmed the upregulation of TGFβ/SMAD signaling and subsequently uncovered the involvement of two closely related transcription cofactors important in fibrogenesis, Yes-associated protein (YAP) and transcriptional coactivator with PDZ-binding motif (TAZ). Knocking down of FAM20C confirmed the TGFβ-YAP/TAZ interplay indicating that a profibrotic loop enabled gingival fibrosis in RNS patients. In summary, our in vivo and in vitro data provide a detailed description of the RNS gingival phenotype. They show that gingival fibrosis and calcifications are associated with, and most likely caused by excessed ECM production and disorganization. They furthermore uncover the contribution of increased TGFβ-YAP/TAZ signaling in the pathogenesis of the gingival fibrosis.
Topics: Humans; Transforming Growth Factor beta; Gingiva; Signal Transduction; Proteomics; Fibrosis; YAP-Signaling Proteins; Osteosclerosis; Adaptor Proteins, Signal Transducing; Transcription Factors; Dental Enamel Hypoplasia; Fibroblasts; Microcephaly; Female; Transcriptional Coactivator with PDZ-Binding Motif Proteins; Male; Trans-Activators; Intracellular Signaling Peptides and Proteins; Casein Kinase I; Extracellular Matrix Proteins; Amelogenesis Imperfecta; Cells, Cultured; Abnormalities, Multiple; Cleft Palate; Exophthalmos
PubMed: 38664418
DOI: 10.1038/s41598-024-59713-0 -
The Journal of Prosthetic Dentistry Jan 2024Amelogenesis imperfecta is a hereditary disorder that affects the enamel formation of the primary and permanent dentition and has significant consequences because...
Amelogenesis imperfecta is a hereditary disorder that affects the enamel formation of the primary and permanent dentition and has significant consequences because hypersensitivity causes difficulty with oral hygiene, function, self-esteem, and quality of life. Patients diagnosed with amelogenesis imperfecta often require extensive treatment, often at an early age. Prosthodontic intervention of adolescent patients with amelogenesis imperfecta presents specific clinical challenges. This clinical report describes the fixed prosthodontic rehabilitation of a teenage patient with amelogenesis imperfecta by using a fully digital workflow throughout the treatment process, which facilitated functional, biomechanical, esthetic, and sociopsychological improvements.
Topics: Adolescent; Humans; Amelogenesis Imperfecta; Follow-Up Studies; Quality of Life; Prosthodontics; Workflow; Esthetics, Dental
PubMed: 35473905
DOI: 10.1016/j.prosdent.2022.02.025