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International Journal of Oral and... Jan 2021The purpose of this review was to integrate the clinical, radiological, microscopic, and molecular data of published cherubism cases, in addition to therapeutic...
The purpose of this review was to integrate the clinical, radiological, microscopic, and molecular data of published cherubism cases, in addition to therapeutic approaches, to provide more concise information about the disease. An electronic search was undertaken in September 2019. Eligibility criteria included publications having enough clinical, radiological, and histological information to confirm the diagnosis. A total of 260 publications reporting 513 cherubism cases were included. Familial history was observed in 310/458 cases (67.7%). SH3BP2 mutations were reported in 101/108 cases (93.5%) and mainly occurred at protein residues 415, 418, 419, and 420. Retrospective clinical grading was possible in 175 cases. Advanced clinical grading was associated with tooth agenesis, but not with other clinical, radiological, and genetic features. Specific amino acid substitutions of SH3BP2 mutations were not associated with the clinical grading of the disease. 'Wait and see' was the most common therapeutic approach. In a small number of cases, drugs were used in the treatment, with variable response. In conclusion, there is no clear correlation between the genotype and the phenotype of the disease, but additional genomic and gene expression regulation information is necessary for a better understanding of cherubism.
Topics: Adaptor Proteins, Signal Transducing; Cherubism; Humans; Mutation; Phenotype; Retrospective Studies
PubMed: 32620450
DOI: 10.1016/j.ijom.2020.05.021 -
Frontiers in Endocrinology 2023The aim of this systematic review was to determine if there exists an efficacious drug treatment for cherubism, based on published studies.
OBJECTIVE
The aim of this systematic review was to determine if there exists an efficacious drug treatment for cherubism, based on published studies.
METHODS
This systematic review included observational case studies reporting pharmacological management of cherubism. We developed specific search strategies for PubMed (including Medline), ScienceDirect, Web of Science. We evaluated the methodological quality of the included studies using criteria from the Joanna Briggs Institute's critical appraisal tools.
RESULTS
Among the 621 studies initially identified by our search script, 14 were selected for inclusion, of which five were classified as having a low risk of bias, four as having an unclear risk, and five a high risk. Overall, 18 cherubism patients were treated. The sample size in each case study ranged from one to three subjects. This review identified three types of drugs used for cherubism management: calcitonin, immunomodulators and anti-resorptive agents. However, the high heterogeneity in case reports and the lack of standardized outcomes precluded a definitive conclusion regarding the efficacy of any treatment for cherubism.
CONCLUSIONS
The present systematic review could not identify an effective treatment for cherubism due to the heterogeneity and limitations of the included studies. However, in response to these shortcomings, we devised a checklist of items that we recommend authors consider in order to standardize the reporting of cherubism cases and specifically when a treatment is given toward identification of an efficacious cherubism therapy.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022351044, identifier CRD42022351044.
Topics: Humans; Cherubism; Treatment Outcome
PubMed: 36998472
DOI: 10.3389/fendo.2023.1104025 -
Frontiers in Endocrinology 2020Bone biopsies have been obtained for many centuries and are one of the oldest known medical procedures in history. Despite the introduction of new noninvasive...
Bone biopsies have been obtained for many centuries and are one of the oldest known medical procedures in history. Despite the introduction of new noninvasive radiographic imaging techniques and genetic analyses, bone biopsies are still valuable in the diagnosis of bone diseases. Advanced techniques for the assessment of bone quality in bone biopsies, which have emerged during the last decades, allows in-depth tissue analyses beyond structural changes visible in bone histology. In this review, we give an overview of the application and advantages of the advanced techniques for the analysis of bone biopsies in the clinical setting of various rare metabolic bone diseases. A systematic literature search on rare metabolic bone diseases and analyzing techniques of bone biopsies was performed in PubMed up to 2019 week 34. Advanced techniques for the analysis of bone biopsies were described for rare metabolic bone disorders including Paget's disease of bone, osteogenesis imperfecta, fibrous dysplasia, Fibrodysplasia ossificans progressiva, X-linked osteoporosis, Loeys-Diets syndrome, osteopetrosis, Erdheim-Chester disease, and Cherubism. A variety of advanced available analytical techniques were identified that may help to provide additional detail on cellular, structural, and compositional characteristics in rare bone diseases complementing classical histopathology. To date, these techniques have only been used in research and not in daily clinical practice. Clinical application of bone quality assessment techniques depends upon several aspects such as availability of the technique in hospitals, the existence of reference data, and a cooperative network of researchers and clinicians. The evaluation of rare metabolic bone disorders requires a repertoire of different methods, owing to their distinct bone tissue characteristics. The broader use of bone material obtained from biopsies could provide much more information about pathophysiology or treatment options and establish bone biopsies as a valuable tool in rare metabolic bone diseases.
Topics: Biopsy; Bone Diseases; Fibrous Dysplasia of Bone; Humans; Loeys-Dietz Syndrome; Myositis Ossificans; Osteitis Deformans; Osteogenesis Imperfecta; Osteopetrosis; Osteoporosis; Rare Diseases
PubMed: 32714279
DOI: 10.3389/fendo.2020.00399