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The International Journal of... 2024Tooth formation is a process tightly regulated by reciprocal interactions between epithelial and mesenchymal tissues. These epithelial-mesenchyme interactions regulate...
Tooth formation is a process tightly regulated by reciprocal interactions between epithelial and mesenchymal tissues. These epithelial-mesenchyme interactions regulate the expression of target genes via transcription factors. Among the regulatory elements governing this process, Epiprofin/Sp6 is a zinc finger transcription factor which is expressed in the embryonic dental epithelium and in differentiating pre-odontoblasts. knockout (-/-) mice present severe dental abnormalities, such as supernumerary teeth and enamel hypoplasia. Here, we describe dentin defects in molars and incisors of -/- mice. We observed that in the absence of Epfn, markers of early odontoblast differentiation, such as alkaline phosphatase activity, expression, and Collagen Type I deposition, are downregulated. In addition, the expression of tight and gap junction proteins was severely impaired in the predontoblastic cell layer of developing -/- molars. Altogether, our data shows that Epfn is crucial for the proper differentiation of dental mesenchymal cells towards functional odontoblasts and subsequent dentin-matrix deposition.
Topics: Mice; Animals; Odontoblasts; Dentin Dysplasia; Cell Differentiation; Odontogenesis; Transcription Factors
PubMed: 38591690
DOI: 10.1387/ijdb.240029lj -
BMJ Case Reports May 2015Fibrous dysplasia (FD) is a benign skeletal lesion occurring due to mutation of Gs α gene and involves one or multiple bones. We present a case of a 30-year-old female...
Fibrous dysplasia (FD) is a benign skeletal lesion occurring due to mutation of Gs α gene and involves one or multiple bones. We present a case of a 30-year-old female patient, with a 1-year history of swelling under her right eye that had gradually increased in size. Extraoral examination revealed a diffuse swelling extending anteroposteriorly from preauricular region to nasolabial fold, frontonasal region and superoinferiorly from zygoma to body of mandible, causing ipsilateral proptosis and contralateral deviation of nose. Intraoral examination showed obliteration of right upper and lower buccal vestibule. CT disclosed expansile lytic lesions involving multiple skull bones, jaws, sternum, rib and thoracic vertebrae. Histopathology displayed broad and interconnected trabeculae connected to the host bone exhibiting reversal lines resembling the mosaic pattern of Paget's disease. These features suggested pagetoid polyostotic FD. The patient underwent cosmetic recontouring and is under regular follow-up postoperatively.
Topics: Adult; Cervical Vertebrae; Diagnosis, Differential; Facial Bones; Female; Fibrous Dysplasia, Polyostotic; Humans; Radiography; Ribs; Skull; Sternum; Treatment Outcome
PubMed: 25969488
DOI: 10.1136/bcr-2014-209149 -
Journal of Carcinogenesis 2020Cancer invasion is a critical step for tumor growth and its progression. The focus on epithelial changes is shifting to increasing recognition that the microenvironment...
Myofibroblasts as important diagnostic and prognostic indicators of oral squamous cell carcinoma: An immunohistochemical study in normal oral mucosa, epithelial dysplasia, and oral squamous cell carcinoma.
BACKGROUND
Cancer invasion is a critical step for tumor growth and its progression. The focus on epithelial changes is shifting to increasing recognition that the microenvironment makes significant contributions to tumor progression. Stromal myofibroblasts play an important role in tumor invasion and metastasis due to its ability to modify the extracellular matrix. Based on this literary evidence, we carried out an immunohistochemical study to observe the expression of myofibroblasts in oral epithelial dysplasia and oral squamous cell carcinoma (OSCC).
AIM
The aim of the study was to evaluate, compare, and correlate the presence of myofibroblasts in normal oral mucosa, oral epithelial dysplasia, and OSCC and to observe different patterns of myofibroblast arrangement using alpha-smooth muscle actin (α-SMA) as a marker, Thus assisting in early diagnosis, treatment, and prognosis of oral carcinomas.
MATERIALS AND METHODS
Thirty-six cases including 12 cases of OSCC, 12 cases of epithelial dysplasia, and 12 cases of normal oral mucosa were stained with hematoxylin and eosin to confirm the diagnosis and immunohistochemically using α-SMA antibody. The slides were evaluated for positivity and intensity of staining.
STATISTICAL ANALYSIS
The result was subjected to statistical analysis using Fisher's exact test.
RESULTS
α-SMA expression in the stroma of squamous cell carcinoma was greater than its expression in epithelial dysplasia and normal oral mucosa.
PubMed: 32684849
DOI: 10.4103/jcar.JCar_3_20 -
Genetics and Molecular Research : GMR Oct 2013The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been...
The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicle formation, short stature, and dental anomalies, including malocclusion, supernumerary teeth, and delayed eruption of permanent teeth. In this study, we recruited three de novo CCD families and performed mutational analysis of the RUNX2 gene as a candidate gene approach. The mutational study revealed three disease-causing mutations: a missense mutation (c.674G>A, p.Arg225Gln), a frameshift mutation (c.1119delC, p.Arg374Glyfs*), and a nonsense mutation (c.1171C>T, p.Arg391*). Clinical examination revealed a unique dental phenotype (no typical supernumerary teeth, but duplication of anterior teeth) in one patient. We believe that this finding will broaden the understanding of the mechanism of supernumerary teeth formation and CCD-related phenotypes.
Topics: Adolescent; Base Sequence; Child; Cleidocranial Dysplasia; Codon, Nonsense; Core Binding Factor Alpha 1 Subunit; DNA Mutational Analysis; Female; Frameshift Mutation; Genetic Association Studies; Humans; Jaw; Male; Mutation, Missense; Radiography; Tooth Abnormalities
PubMed: 24222232
DOI: 10.4238/2013.October.15.5 -
Case Reports in Dentistry 2014Cleidocranial dysplasia (CCD), is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. It is generally characterized by orofacial...
Cleidocranial dysplasia (CCD), is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. It is generally characterized by orofacial manifestations, including enamel hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth. The successful treatment involving a timing intervention (orthodontic-maxillofacial surgeons-restorative) is already described. However, the restorative treatment might improve the aesthetic final result in dentistry management for patients with cleidocranial dysplasia. Objective. Therefore, this clinical report presents a conservative restorative management (enamel microabrasion, dental bleaching, and direct composite resin) for aesthetic solution for a patient with CCD. Clinical Considerations. The cosmetic remodeling is a conservative, secure, and low cost therapy that can be associated with other procedures such as enamel microabrasion and dental bleaching to achieve optimal outcome. Additionally, the Golden Proportion can be used to guide dental remodeling to improve the harmony of the smile and the facial composition. Conclusions. Thus, dentists must know and be able to treat dental aesthetic problems in cleidocranial dysplasia patients. The intention of this paper is to describe a restorative approach with the cosmetic remodeling teeth (by grinding or addicting material) associated with enamel microabrasion and dental bleaching to reestablish the form, shape, and color of smile for patients with cleidocranial dysplasia.
PubMed: 25045546
DOI: 10.1155/2014/901071 -
Journal of Dentistry (Tehran, Iran) May 2014Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical...
Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.
PubMed: 25628672
DOI: No ID Found -
Genes Dec 2022To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest...
To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For this purpose, we searched the databases PubMed and OMIM for the term "ectodermal dysplasia", referring mainly to changes in the last 5 years. We also tried to obtain information about those diseases on which the last scientific report appeared more than 15 years ago by contacting the authors of the most recent publication. A group of experts, composed of researchers who attended the 8th International Conference on Ectodermal Dysplasias and additional members of the previous classification panel, reviewed the proposed amendments and agreed on a final table listing all 49 currently known ectodermal dysplasias for which the molecular genetic basis has been clarified, including 15 new entities. A newly reported ectodermal dysplasia, linked to the gene , is described here in more detail. These ectodermal dysplasias, in the strict sense, should be distinguished from syndromes with features of ectodermal dysplasia that are related to genes extraneous to the currently known pathways involved in ectodermal development. The latter group consists of 34 syndromes which had been placed on the previous list of ectodermal dysplasias, but most if not all of them could actually be classified elsewhere. This update should streamline the classification of ectodermal dysplasias, provide guidance to the correct diagnosis of rare disease entities, and facilitate the identification of individuals who could benefit from novel treatment options.
Topics: Humans; Ectodermal Dysplasia; Syndrome; PubMed; Rare Diseases
PubMed: 36553593
DOI: 10.3390/genes13122327 -
Oral Diseases Apr 2022
Topics: Anodontia; Ectodermal Dysplasia; Humans; Membrane Proteins; Mutation
PubMed: 34028942
DOI: 10.1111/odi.13921 -
The Angle Orthodontist Jul 2018To investigate the characteristics of the dental phenotype in patients with cleidocranial dysplasia (CCD) using longitudinal data.
OBJECTIVE
To investigate the characteristics of the dental phenotype in patients with cleidocranial dysplasia (CCD) using longitudinal data.
MATERIALS AND METHODS
Twelve unrelated Korean CCD patients were observed using a longitudinal series of radiographs and clinical photographs. Statistical analysis was performed on the dental phenotypic data.
RESULTS
Although dysplasia of the clavicles, open fontanelle, and wormian bone were observed in all 12 patients, delayed fusion of the mandibular symphysis was found in four patients. One patient did not have a supernumerary tooth (ST). However, 62 STs were found in 11 patients (mean, 5.6 per patient; range of ST emergence, 5 years 6 months-14 years 8 months; developing position, occlusal to the permanent incisors, canines, and premolars and distal and apical to the permanent molars). The mandibular premolar region was the most frequent area of ST development (50.0%, P < .001). All 12 patients showed impacted permanent teeth (IPT), including one patient without ST (mean, 17.8 per patient). Impaction occurred most frequently in the mandibular premolar region and least frequently in the maxillary molar region (93.8% vs 39.6%, P < .01). The ratio of spontaneous eruption of IPT after removal of retained deciduous teeth and/or ST was highest for the maxillary and mandibular incisors (all 54.6%) and lowest for the mandibular canines and premolars (26.7% and 28.9%, respectively); however, the difference was not significant.
CONCLUSIONS
The emergence time and development position of ST and the root development of IPT should be considered to determine the timing for the removal of ST and forced eruption of IPT.
Topics: Adolescent; Adult; Child; Child, Preschool; Cleidocranial Dysplasia; Core Binding Factor Alpha 1 Subunit; Cranial Sutures; Humans; Longitudinal Studies; Male; Mutation; Phenotype; Photography, Dental; Radiography, Panoramic; Tomography, X-Ray Computed; Tooth, Impacted; Tooth, Supernumerary; Young Adult
PubMed: 29664332
DOI: 10.2319/092617-647.1 -
International Journal of Clinical... 2022Children with congenital or acquired craniofacial abnormalities exhibit an array of dental abnormalities like supernumerary teeth, failure of permanent teeth eruption,...
INTRODUCTION
Children with congenital or acquired craniofacial abnormalities exhibit an array of dental abnormalities like supernumerary teeth, failure of permanent teeth eruption, decreased alveolar bone height, etc. These subjects undergo complex corrective surgeries to improve esthetics and functional derangements, predisposing them to risks of obstructive sleep apnea due to airway obstruction. The various corrective or therapeutic procedures done might lead to airway complications in these children. The study designed was for retrospective evaluation and comparison of the nasopharyngeal (NP) characteristics and assessment of the airway volume three-dimensionally in normal vs cleidocranial subjects.
MATERIALS AND METHODS
Cone-beam computed tomography (CBCT) scans of nine subjects with cleidocranial dysplasia (CCD) were compared with the control sample, and matched for age and sex. A 3D-DOCTOR software by Able Software Corporation was used to calculate the volumetric measurements. The correlation and differences among the values were assessed using an independent -test and Pearson analysis.
RESULTS
The values of lower airway width, upper adenoid width, McNamara upper pharynx, retroglossal area, and total pharyngeal area were found to be reduced in the cleidocranial subjects. The NP airway volume and total airway volume also significantly decreased.
DISCUSSION
Cleidocranial dysplasia (CCD) being a rare genetic disorder, we could find only nine established cases. Hence our study can be called a pilot study but may work to establish a database of any sort of skeletal and dental anomaly with possible specific respiratory characteristics affecting airway.
HOW TO CITE THIS ARTICLE
Chaturvedi S, Chaturvedi Y, Chowdhary S, et A Three-dimensional Analysis of Nasopharyngeal Airway Characteristics in Subjects with Cleidocranial Dysplasia: A CBCT Study. Int J Clin Pediatr Dent 2022;15(5):520-524.
PubMed: 36865729
DOI: 10.5005/jp-journals-10005-2447