Browse
Submit Data
Databases
API
Help

Dataset Information

15 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Cherubism in 12 Year Young Female.

ABSTRACT: Cherubism is a rare benign, autosomal-dominant inherited fibro-osseous lesion of jaw characterized by excessive bone degradation of the upper and lower jaws followed by the development of fibrous tissue masses. It is usually self-limiting; it starts in early childhood and involutes by puberty. The purpose of this clinical report is to describe a nonfamilial case of cherubism on a teenager female patient first treated by calcitonin nasal spray followed by surgical resection and recontouring after puberty.

SUBMITTER: Mazhar H

PROVIDER: S-EPMC6327822 | biostudies-literature | 2018 Jul-Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Cherubism in 12 Year Young Female.

Mazhar Heena H Samudrawar Ratna R Gupta Rubi R Kashyap Mukesh Kumar MK

Annals of maxillofacial surgery 20180701 2

Cherubism is a rare benign, autosomal-dominant inherited fibro-osseous lesion of jaw characterized by excessive bone degradation of the upper and lower jaws followed by the development of fibrous tissue masses. It is usually self-limiting; it starts in early childhood and involutes by puberty. The purpose of this clinical report is to describe a nonfamilial case of cherubism on a teenager female patient first treated by calcitonin nasal spray followed by surgical resection and recontouring after ...[more]

PMID: 30693269

Similar Datasets

Gymnast's wrist in a 12-year-old female with MRI correlation.

Project description:We describe a case of chronic overuse injury of the distal radial physis (gymnast's wrist). While the radiographic appearance of this entity has been reported, there are limited studies highlighting the MR appearance of this entity. This lesion is being seen with increasing frequency in young, elite gymnasts. If this injury goes unrecognized, there is potential for abnormal osseous development, with premature physeal fusion, abnormal joint inclination and even Madelung deformity.

| S-EPMC6297268 | biostudies-literature

Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease.

Project description:UnlabelledCherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Here we present two cases of familial cherubism, uncle and nephew, with variable clinical involvement ("Expressivity"), and one case of a woman (sister and mother, respectively), who transmitted cherubism without suffering the disease. In this article we have shown that, in familial cherubism cases, the mutation is inherited through an autosomal dominant transmission. Mutations affecting gene SH3BP2 cause variable clinical involvement (variable expressivity), involvement can be moderate, severe or may result merely in asymptomatic carriers. Since the possibility of transmission reaches 50% of chances, we believe that it is important to develop genetic counseling for both patients and carriers, in order to prevent or minimize new affected offspring.KeywordsCherubism; SH3BP2; Expressivity.

| S-EPMC3842775 | biostudies-literature

Cherubism: a case report.

Project description:Cherubism, a pediatric disease, is a self limiting non-neoplastic autosomal dominant fibro-osseous disorder of jaws. It is a self limiting disease and rarely apparent before the age of two years. It occurs in children and predominantly in boys. It is characterized by clinical bilateral swelling of cheeks due to bony enlargement of jaws that give the patient a typical 'cherubic' look. Regression occurs during puberty when the disease stabilizes after the growth period leaving some facial deformity and malocclusion. Cherubism may occur in solitary cases or in many members of the family, often in multiple generations. Radiographically, lesion appears as bilateral multilocular radiolucent areas. Since it was first described by Jones in 1933, many cases have been documented. Here a case of 8 years old cherubic child, with his clinical appearance as well as radiological evaluation and discussion about clinical outcome are presented. The patient was diagnosed but not treated.

| S-EPMC4086575 | biostudies-literature

Cherubism: best clinical practice.

Project description:Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions proliferate and increase in size until puberty. The lesions subsequently begin to regress, fill with bone and remodel until age 30, when they are frequently not detectable.Fibro-osseous lesions, including those in cherubism have been classified as quiescent, non-aggressive and aggressive on the basis of clinical behavior and radiographic findings. Quiescent cherubic lesions are usually seen in older patients and do not demonstrate progressive growth. Non-aggressive lesions are most frequently present in teenagers. Lesions in the aggressive form of cherubism occur in young children and are large, rapidly growing and may cause tooth displacement, root resorption, thinning and perforation of cortical bone.Because cherubism is usually self-limiting, operative treatment may not be necessary. Longitudinal observation and follow-up is the initial management in most cases. Surgical intervention with curettage, contouring or resection may be indicated for functional or aesthetic reasons. Surgical procedures are usually performed when the disease becomes quiescent. Aggressive lesions that cause severe functional problems such as airway obstruction justify early surgical intervention.

| S-EPMC3359956 | biostudies-literature

Cherubism: A rare case report.

Project description:Cherubism is a rare congenital disease resulting in malformation of the jaw. It occurs before the age of 5 years and regress spontaneously after puberty. It can result into enlargement of the jaw bone, tooth displacement, facial disfigurement and psychological trauma to patient. Hence, the understanding about the condition, its progression and management is necessary.

| S-EPMC4121945 | biostudies-literature

Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism.

Project description:Cherubism is caused by mutations in SH3BP2. Studies of cherubism mice showed that tumor necrosis factor ? (TNF-?)-dependent autoinflammation is a major cause of the disorder but failed to explain why human cherubism lesions are restricted to jaws and regress after puberty. We demonstrate that the inflammation in cherubism mice is MYD88 dependent and is rescued in the absence of TLR2 and TLR4. However, germ-free cherubism mice also develop inflammation. Mutant macrophages are hyperresponsive to PAMPs (pathogen-associated molecular patterns) and DAMPs (damage-associated molecular patterns) that activate Toll-like receptors (TLRs), resulting in TNF-? overproduction. Phosphorylation of SH3BP2 at Y183 is critical for the TNF-? production. Finally, SYK depletion in macrophages prevents the inflammation. These data suggest that the presence of a large amount of TLR ligands, presumably oral bacteria and DAMPs during jawbone remodeling, may cause the jaw-specific development of human cherubism lesions. Reduced levels of DAMPs after stabilization of jaw remodeling may contribute to the age-dependent regression.

| S-EPMC4177302 | biostudies-literature

Higher Risk of Thyroid Disorders in Young Patients with Type 1 Diabetes: A 12-Year Nationwide, Population-Based, Retrospective Cohort Study.

Project description:The association between type 1 diabetes and thyroid autoimmunity has been studied in various populations, but seldom on Taiwanese children and adolescents. Therefore, the aim of this study was to examine the incidence of autoimmune thyroid disorders in Taiwanese children and adolescent patients with type 1 diabetes, based on data from a nationwide, population-based, health claims database.Using Taiwan's National Health Insurance Research Database, we identified 3,652 patients with type 1 diabetes between 2000 and 2012. A comparison cohort was assembled, which consisted of five patients without type 1 diabetes, based on frequency matching for sex and 3-year age interval, for each patient with type 1 diabetes. Both groups were followed until diagnosis of thyroid disorders or the end of the follow-up period. Poisson regression models were used to calculate incidence rate ratios for the thyroid disorders between the type 1 diabetes cohort and the comparison cohort.Simple and unspecified goiter (International Classification of Diseases, 9th Revision, Clinical Modification [ICD-9-CM] code 240), thyrotoxicosis (ICD-9-CM code 242), unspecified hypothyroidism (ICD-9-CM code 244.9), and thyroiditis (ICD-9-CM code 245) showed significantly higher incidences in the type 1 diabetes cohort compared with the control cohort, with incidence rate ratios of 2.74, 6.95, 6.54, 16.07, respectively.Findings from this nationwide, population-based cohort study showed that the incidences of autoimmune thyroid disorders were significantly higher in Taiwanese children and adolescents with type 1 diabetes compared with those without the disease.

| S-EPMC4805275 | biostudies-other

Pharmacological management of cherubism: A systematic review.

Project description:ObjectiveThe aim of this systematic review was to determine if there exists an efficacious drug treatment for cherubism, based on published studies.MethodsThis 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.ResultsAmong 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.ConclusionsThe 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 registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022351044, identifier CRD42022351044.

| S-EPMC10044089 | biostudies-literature

Aicardi syndrome in a 20-year-old female.

Project description:To describe an unusual case of Aicardi Syndrome that both affirms hallmark characteristics of the condition and introduces new observations.We report the case of a 20-year-old woman with Aicardi Syndrome who presented in respiratory distress with bradycardia and died soon thereafter. She had a history of severe mental retardation, seizure disorder, advanced scoliosis and numerous contractures in addition to congenital ocular malformations resulting in bilateral blindness. The case is notable for her age and longevity, as most patients with Aicardi Syndrome expire much younger, as well as the presence of intact nuclei under the posterior lens capsule.Aicardi Syndrome is a rare X-linked cerebro-retinal disorder typified by seizures, agenesis of the corpus callosum, and chorioretinal lacunae. Documenting alterations from and additions to this triad of symptoms is critical to better understanding both the syndrome itself, as well as the full breadth of its clinical impact on the patient.

| S-EPMC6143771 | biostudies-other

Visual impairment increases the risk of dementia, especially in young males in a 12-year longitudinal follow-up study of a national cohort.

Project description:We investigated the effect of visual impairment (VI) on dementia development in a national cohort. In this 12-year nationwide population-based retrospective cohort study, national data were collected from National Health Insurance Cooperation of South Korea from 2002 to 2017, comprising 799,074 subjects selected from the dementia-free cohort representative of the Korean population. Crude hazard ratios (HRs) as well as age- and sex-adjusted HRs and confidence intervals (CIs) for the development of dementia were estimated using multivariable Cox regression models. VI significantly increased the risk of dementia with a HR of 2.726 (95% CI 2.251-3.300, p < 0.0001) after adjusting for age, sex, and interaction between age, sex, and VI. HR of interaction between VI and age for dementia was 0.539 (95% CI 0.436-0.667, p < 0.0001). In the sensitivity analysis after adjustment for age, sex, household income level, BMI and other comorbidities, VI showed higher risk for all the type of dementia (p < 0.0001). In subgroup analysis of VI, young males showed the highest risk for development of dementia with a HR of 2.687 (95% CI 2.219-3.254, p < 0.0001). VI significantly increased the risk of dementia in the study cohort, and young males with VI appeared to be the most susceptible to the development of dementia.

| S-EPMC8167134 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data