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Head and Neck Pathology Mar 2022The 5 edition of the World Health Organization (WHO) Classification of Head and Neck Tumours (2022) comes out only five years after the previous edition, however it...
The 5 edition of the World Health Organization (WHO) Classification of Head and Neck Tumours (2022) comes out only five years after the previous edition, however it presents important updates that run in parallel with the rapid progression involving the increasingly sophisticated molecular investigation and its interpretation, some of which already have therapy-related impact. This manuscript provides an overview of the leading changes introduced in the classification of Odontogenic and Maxillofacial Bone Tumours that encompasses cysts of the jaws, odontogenic tumours, giant cell lesions and bone cysts, and bone and cartilage tumours. This is the first edition that Essential and Desirable Diagnostic Features were added for each entity, so that the most important clinical, microscopic and/or radiologic features were encapsulated and briefly highlighted. Surgical ciliated cyst was added to the group of odontogenic cysts, adenoid ameloblastoma was a newly recognized benign epithelial odontogenic tumour, and segmental odontomaxillary dysplasia was introduced in the group of fibro-osseous tumours and dysplasia. In addition, rhabdomyosarcoma with TFCP2 rearrangement, was introduced into the group of malignant jawbone tumours. The unique genetic aberrations distinguish it from other types of rhabdomyosarcomas. On the other hand, melanotic neuroectodermal tumour of infancy and osteoid osteoma were deleted from the benign bone and cartilageneous tumours, as was the hematolymphoid tumour of solitary plasmacytoma of bone. We systematically reviewed each entity in this chapter and provided important updated findings for selected topics that can further aid in the diagnostic process for challenging cases, broaden insights on the logic of the present classification, and finally, emphasize the potential that some of the molecular results may have in the near future to set new treatment approaches.
Topics: Bone Neoplasms; DNA-Binding Proteins; Head and Neck Neoplasms; Humans; Odontogenic Cysts; Odontogenic Tumors; Transcription Factors; World Health Organization
PubMed: 35312978
DOI: 10.1007/s12105-021-01404-7 -
Orphanet Journal of Rare Diseases Oct 2022The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to... (Review)
Review
OBJECTIVE
The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation.
METHODS
The systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analysis statement. We systematically searched PubMed, Web of Science, Scopus, Scielo, LILACS, EBSCOhost and Embase databases up to 6 January 2022. We included articles describing patients with any type of ectodermal dysplasia who received orthodontic or dentofacial orthopedic treatment to facilitate functional and aesthetic oral rehabilitation. The search was not restricted by language or year of publication. The quality of the studies was assessed using the Joanna Briggs Institute Quality Assessment Scale of the University of Adelaide for case series and case reports. The review was registered at the University of York Centre for reviews (CRD42021288030).
RESULTS
Of the initial 403 studies found, 29 met the inclusion criteria. After applying the quality scale, 23 were left for review-21 case reports and 2 case series. The initial age of patients ranged from 34 months to 24 years. Thirteen studies were on hypohidrotic and/or anhidrotic ectodermal dysplasia, of which two were X-chromosome linked. In one study, the patient had Wiktop syndrome, and in nine the type of ectodermal dysplasia was not specified. The duration of treatment was 7 weeks to 10 years. The treatments described were: fixed orthodontic appliances or simple acrylic plates designed for tooth movement, including leveling and aligning, closing of diastemata, retraction of impacted teeth in the dental arch; clear aligners; fixed and/or removable appliances for the correction of skeletal and/or dentoalveolar relationships; palatal expanders in combination with face masks for orthopedic traction of the maxilla; and orthognathic surgery. Only three studies provided cephalometric data.
CONCLUSION
The level of evidence of the articles reviewed was low and most orthopedic and dentofacial orthodontic treatments described were focused on correcting dental malpositioning and jaw asymmetries and not on stimulating growth from an early age. Studies with greater scientific evidence are needed to determine the best treatment for these patients.
Topics: Child, Preschool; Ectodermal Dysplasia; Ectodermal Dysplasia 1, Anhidrotic; Humans; Tooth Movement Techniques
PubMed: 36253866
DOI: 10.1186/s13023-022-02533-0 -
Medicina Oral, Patologia Oral Y Cirugia... May 2016Gold standard for the diagnosis of oral dysplasia (OD) and oral squamous cell carcinoma (OSCC) and malignant lesions is the histological examination. Several adjunctive... (Review)
Review
BACKGROUND
Gold standard for the diagnosis of oral dysplasia (OD) and oral squamous cell carcinoma (OSCC) and malignant lesions is the histological examination. Several adjunctive diagnostic techniques have been proposed in order to increase the sensitivity (SE) and specificity (SP) of conventional oral examination and to improve the diagnostic first level accuracy. The aim of this study is to perform a systematic review on non-invasive tools for diagnosis of OD and early OSCC.
MATERIAL AND METHODS
Medline, Scopus, Web of Knowledge databases were searched, using as entry terms "oral dysplasia AND diagnosis" / "oral cancer AND diagnosis". Data extracted from each study included number of lesions evaluated, histopathological diagnosis, SE, SP, positive and negative predictive values (PPV and NPV), diagnostic accuracy (DA) and the main conclusions.
RESULTS
After title and abstract scanning of 11.080 records, we selected 35 articles for full text evaluation. Most evaluated tools were autofluorescence (AF), chemiluminescence (CL), toluidine blu (TL) and chemiluminescence associated with toluidine blue (CLTB).
CONCLUSIONS
There is a great inhomogeneity of the reported values and there is no significant evidence of superiority of one tool over the other. Further clinical trials with a higher level of evidence are necessary in order to assess the real usefulness visual diagnostic tools.
Topics: Carcinoma, Squamous Cell; Humans; Hyperplasia; Mouth Neoplasms; Sensitivity and Specificity; Tolonium Chloride
PubMed: 26946204
DOI: 10.4317/medoral.20996 -
Biomolecules Dec 2021Oral cancer is a significant public health issue, being the eighth most common cancer worldwide with over 300,000 cases diagnosed annually. Early diagnosis and adequate... (Review)
Review
Oral cancer is a significant public health issue, being the eighth most common cancer worldwide with over 300,000 cases diagnosed annually. Early diagnosis and adequate management of oral potentially malignant disorders (OPMDs) before transformation into oral squamous cell carcinoma (OSCC) is critical to reduce deaths, morbidity, and to improve overall prognosis. MicroRNAs (miRNAs) are small noncoding RNAs involved in the post-transcriptional regulation of protein expression and implicated in the control of numerous cellular pathways and impacting physiological, developmental, and pathological processes. Dysregulation of miRNAs has been reported in many cancers and has been demonstrated to play a critical role in cancer initiation, progression, apoptosis, invasion and metastasis. This systematic review provides a comprehensive summary of the prevailing literature on miRNA signatures in OPMDs, specifically leukoplakia with or without oral epithelial dysplasia, and their utility in predicting malignant transformation into OSCC. Eighteen articles describing 73 unique and differentially expressed microRNAs met the criteria for inclusion in this review. We reviewed the characteristics and methodology for each of these studies and assessed the sensitivity and specificity of the studied miRNAs in predicting malignant transformation. This systematic review highlights the significant interest in miRNAs and their tremendous potential as prognostic markers for predicting the malignant transformation of OPMDs into OSCC.
Topics: Biomarkers, Tumor; Carcinoma, Squamous Cell; Disease Progression; Gene Expression Regulation, Neoplastic; Gene Regulatory Networks; Humans; Leukoplakia, Oral; MicroRNAs; Mouth Neoplasms
PubMed: 34944523
DOI: 10.3390/biom11121879 -
Annals of Medicine and Surgery (2012) May 2022Cleidocranial dysplasia (CCD) is a rare disease characterized by craniofacial, skeletal, and oral anomalies. The disease prevalence is estimated to be 1 per million... (Review)
Review
INTRODUCTION
Cleidocranial dysplasia (CCD) is a rare disease characterized by craniofacial, skeletal, and oral anomalies. The disease prevalence is estimated to be 1 per million inhabitants; thus, only a few studies have described large cohorts of CCD patients. This study reviewed the clinical-radiological and demographic characteristics of patients with CCD in South America.
METHODS
We conducted a systematic review of all cases of CCD reported in South America following the PRISMA guidelines. Demographic information (sex, age at diagnosis, origin, reason for consultation, and family history) was also recorded. CCD signs were divided into "craniofacial" and "skeletal" categories.
RESULTS
A total of 72 cases were included. We found that oral anomalies were the most common reason for consultation leading to a diagnosis in patients, with a median age at diagnosis of 14 years. Fifty percent of the patients were women. Open fontanels or cranial sutures, the presence of at least one of the typical CCD facies (frontal bossing, brachycephaly, hypertelorism, or depression of the nasal bridge), and supernumerary teeth were reported in 92%, 85%, and 88% of cases, respectively. Clavicular dysplasia was present in 98.6% of cases, and other skeletal abnormalities such as scoliosis, pubic symphysis diastasis, and flat feet were found; short stature was present in 71% of cases, and one case presented cognitive deficits.
CONCLUSION
Although the phenotypic spectrum of CCD is variable, clavicular dysplasia, open fontanels or cranial sutures, dental anomalies, and at least one of the typical CCD facies are present in at least 80% of cases.
PubMed: 35638029
DOI: 10.1016/j.amsu.2022.103611 -
Bone Feb 2022Fibrous dysplasia (FD) is a rare genetic bone disorder resulting in an overproduction of cAMP leading to a structurally unsound tissue, caused by a genetic mutation in...
BACKGROUND
Fibrous dysplasia (FD) is a rare genetic bone disorder resulting in an overproduction of cAMP leading to a structurally unsound tissue, caused by a genetic mutation in the guanine nucleotide-binding protein gene (GNAS). In order to better understand this disease, several animal models have been developed with different strategies and features.
OBJECTIVE
Conduct a systematic review to analyze and compare animal models with the causative mutation and features of FD.
METHODS
A PRISMA search was conducted in Scopus, PubMed, and Web of Science. Studies reporting an in vivo model of FD that expressed the causative mutation were included for analysis. Models without the causative mutation, but developed an FD phenotype and models of FD cell implantation were included for subanalysis.
RESULTS
Seven unique models were identified. The models were assessed and compared for their face validity, construct validity, mosaicism, and induction methods. This was based on the features of clinical FD that were reported within the categories of: macroscopic features, imaging, histology and histomorphometry, histochemical and cellular markers, and blood/urine markers.
LIMITATIONS
None of the models reported all features of FD and some features were only reported in one model. This made comparing models a challenge, but indicates areas where further research is necessary.
CONCLUSION
The benefits and disadvantages of every model were assessed from a practical and scientific standpoint. While all published reports lacked complete data, the models have nonetheless informed our understanding of FD and provided meaningful information to guide researchers in bench and clinical research.
Topics: Animals; Bone and Bones; Fibrous Dysplasia of Bone; GTP-Binding Protein alpha Subunits, Gs; GTP-Binding Proteins; Mutation
PubMed: 34875396
DOI: 10.1016/j.bone.2021.116270 -
The Journal of Clinical Endocrinology... Aug 2023Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by...
CONTEXT
Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish.
OBJECTIVE
The objective was to determine and expand the phenotypic spectrum of KCS1 and KCS2 in order to anticipate complications that may arise in these disorders.
METHODS
We clinically and genetically analyzed 10 KCS2 patients from 7 families. Because we found unusual phenotypes in our cohort, we performed a systematic review of genetically confirmed KCS cases using PubMed and Scopus. Evaluation by 3 researchers led to the inclusion of 26 papers for KCS1 and 16 for KCS2, totaling 205 patients. Data were extracted following the Cochrane guidelines and assessed by 2 independent researchers.
RESULTS
Several patients in our KCS2 cohort presented with intellectual disability (3/10) and chronic kidney disease (6/10), which are not considered common findings in KCS2. Systematic review of all reported KCS cases showed that the phenotypes of KCS1 and KCS2 overlap for postnatal growth retardation (KCS1: 52/52, KCS2: 23/23), low parathyroid hormone levels (121/121, 16/20), electrolyte disturbances (139/139, 24/27), dental abnormalities (47/50, 15/16), ocular abnormalities (57/60, 22/23), and seizures/spasms (103/115, 13/16). Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common.
CONCLUSION
Our case series established chronic kidney disease as a new feature of KCS2. In the literature, we found substantial overlap in the phenotypic spectra of KCS1 and KCS2, but identified intellectual disability and the abnormal bone phenotype as the most distinguishing features.
Topics: Humans; Intellectual Disability; Hyperostosis, Cortical, Congenital; Phenotype; Electrolytes; Hypoparathyroidism
PubMed: 36916904
DOI: 10.1210/clinem/dgad147 -
Sultan Qaboos University Medical Journal Feb 2023This systematic review and meta-analysis aimed to assess the cytotoxic and genotoxic impacts of waterpipe smoking on oral health. The databases MEDLINE, Cochrane Library... (Meta-Analysis)
Meta-Analysis Review
This systematic review and meta-analysis aimed to assess the cytotoxic and genotoxic impacts of waterpipe smoking on oral health. The databases MEDLINE, Cochrane Library and Dimensions were searched to find studies evaluating whether waterpipe smokers exhibited any cytotoxic or genotoxic effects on their oral cells compared to non-smokers, with regard to mouth neoplasms. Particularly, changes in DNA methylation and p53 expression were assessed. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were adopted for the systematic review. Review Manager was utilised for statistical analysis with a significance level at <0.05. To assess the grades of the included articles, a risk of bias analysis was summarised. A forest plot, including some of the included articles included, was created regarding the different grades. A total of 20 studies were included in this review. The results showed that waterpipe smoking has cytotoxic and genotoxic effects on oral cells, with a risk difference of 0.16. Although the published articles are few in number, all confirm the devastating effects of waterpipe smoking related to the carcinogenicity. Waterpipe smoking is harmful to oral health. It causes a series of detrimental cellular and genetic modifications such as acanthosis, epithelial dysplasia and hyperparakeratosis. In addition, waterpipe smoke contains several carcinogenic compounds. As it releases many harmful organic compounds, waterpipe smoking increases the incidence of oral cancer.
Topics: Humans; Oral Health; Water Pipe Smoking; Antineoplastic Agents; Mouth Neoplasms; DNA Damage
PubMed: 36865434
DOI: 10.18295/squmj.6.2022.043 -
Diagnostics (Basel, Switzerland) May 2022To systematically review the clinicopathological features of oral warty keratoma based on published literature. (Review)
Review
OBJECTIVE
To systematically review the clinicopathological features of oral warty keratoma based on published literature.
MATERIALS AND METHODS
PubMed and Scopus databases were searched for reports of oral warty dyskeratoma. Of the 52 identified articles, only 25 articles (43 cases) satisfied the selection criteria (case report/series in the English language reporting clinicopathologically diagnosed oral warty dyskeratoma/oral focal acantholytic keratosis/oral isolated dyskeratosis follicularis in humans). Risk of bias was assessed using the Joanna Briggs institute critical appraisal checklist for case reports and case series.
RESULTS
Most cases had well-circumscribed, white, nodular verruco-papillary lesions with a central depressed/crater-like area. Alveolar ridges were the most frequent sites of occurrence and tobacco was the most commonly associated risk factor. Histopathologically, the most pathognomonic feature was the supra-basal clefting. The cleft had dyskeratotic acantholytic cells (corps ronds, and grains). Below the cleft were projections of the connective tissue villi lined by basal cells. The basal cells in a few cases exhibited hyperplasia in the form of budding into the stroma, but epithelial dysplasia was not reported. The surface epithelium had crypts filled with keratin debris.
CONCLUSION
Oral warty dyskeratoma is a rare solitary self-limiting benign entity, which due to its clinical and histopathological resemblance and associated habit history could be misdiagnosed as leukoplakia or carcinoma. None of the assessed articles provided molecular data, which in turn could be the reason for the lack of insight into the etiopathogenesis of this enigmatic lesion.
PubMed: 35626429
DOI: 10.3390/diagnostics12051273 -
Journal of Clinical and Experimental... Apr 2023The bone growth factor was a conditioning circumstance that limited the use of implants in children and adolescents, which, in cases of anodontia or severe oligodontia,... (Review)
Review
BACKGROUND
The bone growth factor was a conditioning circumstance that limited the use of implants in children and adolescents, which, in cases of anodontia or severe oligodontia, forced pediatric dentists to abandon their use, leaving children with removable prostheses, at an age and in a social context with increasingly functional and esthetic demands. Purpose. The objective is to assess which variables influence the survival of dental implants in pediatric patients with severe agenesis.
MATERIAL AND METHODS
A search was carried out in the Pubmed, Scopus and Web of Science databases, which was completed with a manual search.
RESULTS
The following variables were extracted from the selected studies: author and year, number of patients or cases described, age, gender, number of implants, follow-up time, implanted area, percentage of success or failure, medical and dental history of the patients, type of treatment and study design.
CONCLUSIONS
The use of implants as a treatment at an early age has been a controversial issue. Using the appropriate preventive measures, the clinician can offer the child or adolescent a better life quality, esthetics and functionality, until the growth completion period allows for more complex and extensive rehabilitative treatments. A success rate of 89.8% was established for these implants, with no association with follow-up time or type of implant used. The highest survival rates were reported in the anterior mandibular region. Pediatric dentistry, ectodermal dysplasia, anodontia, oligodontia and dental implant.
PubMed: 37152493
DOI: 10.4317/jced.60168