A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination.
A group of telomere associated proteins that interact with TRF1 PROTEIN, contain ANKYRIN REPEATS and have poly(ADP-ribose) polymerase activity.
A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw.
'Mandibular diseases' refer to various medical conditions that primarily affect the structure, function, or health of the mandible (lower jawbone), including but not limited to infections, tumors, developmental disorders, and degenerative diseases.
Bony structure of the mouth that holds the teeth. It consists of the MANDIBLE and the MAXILLA.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Extraoral body-section radiography depicting an entire maxilla, or both maxilla and mandible, on a single film.

Study of the cell biology and biochemistry of cherubism. (1/25)

AIMS: To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in-depth modern biochemical study of four children in the same family. SUBJECTS AND METHODS: Four related children with cherubism were studied. Tissue taken from one of the children at elective decompression of an optic nerve was submitted to in vitro bone resorption studies. Cytogenetic studies were done on two of the children and biochemical studies on all four. RESULTS: The multinucleate cells in the cherubic lesions were shown to be osteoclasts since they synthesised tartrate resistant acid phosphatase, expressed the vitronectin receptor, and resorbed bone. Bone resorption by the cultured multinucleate cells was significantly inhibited by calcitonin. High resolution cytogenetic studies failed to detect any chromosomal abnormalities in two children with cherubism. The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels. Urine analysis of pyridinium and deoxypyridinium cross links, hydroxyproline, and calcium in relation to urine creatinine were measured to assess bone resorption in these children, and the values were at the upper end of the normal range in all four. CONCLUSIONS: Further studies are required to determine whether calcitonin treatment will control this grossly deforming disease until the time when the physiological changes that occur at puberty rectify the pathology. It is not recommended that biochemical markers of bone resorption are used in isolation to monitor the activity of cherubism in individuals because the results are based on a small number of children and because of reports of marked interindividual variation in the levels of these markers, particularly in children.  (+info)

The gene for cherubism maps to chromosome 4p16.3. (2/25)

Cherubism is a rare familial disease of childhood characterized by proliferative lesions within the mandible and maxilla that lead to prominence of the lower face and an appearance reminiscent of the cherubs portrayed in Renaissance art. Resolution of these bony abnormalities is often observed after puberty. Many cases are inherited in an autosomal dominant fashion, although several cases without a family history have been reported. Using two families with clinically, radiologically, and/or histologically proved cherubism, we have performed a genomewide linkage search and have localized the gene to chromosome 4p16.3, with a maximum multipoint LOD score of 5. 64. Both families showed evidence of linkage to this locus. Critical meiotic recombinants place the gene in a 3-cM interval between D4S127 and 4p-telomere. Within this region a strong candidate is the gene for fibroblast growth factor receptor 3 (FGFR3); mutations in this gene have been implicated in a diverse set of disorders of bone development.  (+info)

The gene for cherubism maps to chromosome 4p16. (3/25)

Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of approximately 22 cM.  (+info)

Cherubism in siblings: a case report. (4/25)

Cherubism is a non-neoplastic bone disease characterized by clinically evident bilateral, painless enlargements of the jaws that are said to give the patient a cherubic appearance. Cherubism may appear in solitary cases or in many members of the same family, often in multiple generations. On radiography, the lesions exhibit bilateral multilocular radiolucent areas. Histopathologic evaluation reveals proliferating fibrous connective tissue containing numerous multinucleated giant cells. Since the first description of this condition in 1933, almost 200 cases have been reported. We describe cherubism in 2 siblings and briefly review the literature on this subject.  (+info)

Temporal bone involvement in cherubism: case report. (5/25)

Cherubism is a rare benign hereditary fibro-osseous disease involving the mandible and maxilla. We report a case of cherubism in a 10-year-old girl for which the panoramic radiograph was insufficient for diagnosis of the disease. Clinical, histological, and radiological findings were discussed. The CT was taken and it confirmed not only the involvement of the jaws but also of the temporal bone. This was not found in the conventional radiograph.  (+info)

A novel mutation in the SH3BP2 gene causes cherubism: case report. (6/25)

BACKGROUND: Cherubism is a rare hereditary multi-cystic disease of the jaws, characterized by its typical appearance in early childhood, and stabilization and remission after puberty. It is genetically transmitted in an autosomal dominant fashion and the gene coding for SH3-binding protein 2 (SH3BP2) may be involved. CASE PRESENTATION: We investigated a family consisting of 21 members with 3 female affected individuals with cherubism from Northern China. Of these 21 family members, 17 were recruited for the genetic analysis. We conducted the direct sequence analysis of the SH3BP2 gene among these 17 family members. A disease-causing mutation was identified in exon 9 of the gene. It was an A1517G base change, which leads to a D419G amino acid substitution. CONCLUSION: To our knowledge, the A1517G mutation has not been reported previously in cherubism. This finding is novel.  (+info)

Jawing about TNF: new hope for cherubism. (7/25)

Mutations in the SH3-domain binding protein 2 (SH3BP2) are known to cause a rare childhood disorder called cherubism that is characterized by inflammation and bone loss in the jaw, but the mechanism has remained unclear. In this issue, Ueki et al. (Ueki et al., 2007) now demonstrate that a cherubism mutation activates mouse Sh3bp2 resulting in enhanced production of the cytokine TNF-alpha by myeloid cells, leading to both bone loss and inflammation.  (+info)

Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. (8/25)

While studies of the adaptor SH3BP2 have implicated a role in receptor-mediated signaling in mast cells and lymphocytes, they have failed to identify its function or explain why SH3BP2 missense mutations cause bone loss and inflammation in patients with cherubism. We demonstrate that Sh3bp2 "cherubism" mice exhibit trabecular bone loss, TNF-alpha-dependent systemic inflammation, and cortical bone erosion. The mutant phenotype is lymphocyte independent and can be transferred to mice carrying wild-type Sh3bp2 alleles through mutant fetal liver cells. Mutant myeloid cells show increased responses to M-CSF and RANKL stimulation, and, through mechanisms of increased ERK 1/2 and SYK phosphorylation/activation, they form macrophages that express high levels of TNF-alpha and osteoclasts that are unusually large. M-CSF and RANKL stimulation of myeloid cells that overexpress wild-type SH3BP2 results in similar large osteoclasts. This indicates that the mutant phenotype reflects gain of SH3BP2 function and suggests that SH3BP2 is a critical regulator of myeloid cell responses to M-CSF and RANKL stimulation.  (+info)

Cherubism is a rare, genetic disorder that affects the bones of the jaw. It is characterized by the replacement of the normal bone with fibrous tissue and cysts, leading to progressive enlargement of the lower jaw (mandible) and, less commonly, the upper jaw (maxilla). The swelling gives the cheeks a fuller appearance, which may resemble the chubby faces of cherubs in art.

The condition typically becomes apparent between the ages of 2 and 7, and it usually progresses until the teenage years, when it begins to stabilize and eventually regress in early adulthood. Cherubism is caused by mutations in the SH3BP2 gene and is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one parent is affected.

While cherubism can cause significant facial deformities, it rarely affects the person's ability to eat, speak, or breathe. Treatment options include observation, orthodontic treatment, and surgical intervention to remove the cysts and reshape the jawbones if necessary.

Tankyrases are a group of proteins that belong to the poly (ADP-ribose) polymerase (PARP) family, specifically PARP5a and PARP5b. They play roles in various cellular processes such as telomere maintenance, Wnt signaling pathway regulation, and protein trafficking. Tankyrases add poly(ADP-ribose) chains to their target proteins, leading to changes in their function, localization, or stability. Dysregulation of tankyrases has been implicated in several diseases, including cancer.

A giant cell granuloma is a type of non-cancerous (benign) lesion characterized by the presence of large collections of immune cells called macrophages, which have fused together to form multinucleated giant cells. These lesions can occur in various tissues throughout the body but are most commonly found in the oral cavity and jawbone.

Giant cell granulomas can be further classified into two types: central (or bone) giant cell granuloma and peripheral giant cell granuloma. Central giant cell granulomas arise from the bone, while peripheral giant cell granulomas occur in the soft tissues of the gingiva or mouth lining.

Central giant cell granulomas are more aggressive than peripheral ones and can cause significant bone destruction if left untreated. They typically affect younger individuals, with a higher prevalence in females than males. The exact cause of central giant cell granulomas is not well understood but may be associated with local trauma, hormonal imbalances, or genetic factors.

Peripheral giant cell granulomas are less aggressive and usually present as painless, slow-growing nodules on the gums. They typically affect adults, with a higher prevalence in females than males. Peripheral giant cell granulomas may be associated with local irritants such as plaque, calculus, or dental restorations.

Treatment for giant cell granulomas depends on their size, location, and aggressiveness. Surgical excision is the most common treatment approach, but other options such as curettage, corticosteroid injections, or medication therapy may also be considered. Regular follow-up appointments with a healthcare provider are essential to monitor for recurrence.

Mandibular diseases refer to conditions that affect the mandible, or lower jawbone. These diseases can be classified as congenital (present at birth) or acquired (developing after birth). They can also be categorized based on the tissues involved, such as bone, muscle, or cartilage. Some examples of mandibular diseases include:

1. Mandibular fractures: These are breaks in the lower jawbone that can result from trauma or injury.
2. Osteomyelitis: This is an infection of the bone and surrounding tissues, which can affect the mandible.
3. Temporomandibular joint (TMJ) disorders: These are conditions that affect the joint that connects the jawbone to the skull, causing pain and limited movement.
4. Mandibular tumors: These are abnormal growths that can be benign or malignant, and can develop in any of the tissues of the mandible.
5. Osteonecrosis: This is a condition where the bone tissue dies due to lack of blood supply, which can affect the mandible.
6. Cleft lip and palate: This is a congenital deformity that affects the development of the face and mouth, including the lower jawbone.
7. Mandibular hypoplasia: This is a condition where the lower jawbone does not develop properly, leading to a small or recessed chin.
8. Developmental disorders: These are conditions that affect the growth and development of the mandible, such as condylar hyperplasia or hemifacial microsomia.

In medical terms, the jaw is referred to as the mandible (in humans and some other animals), which is the lower part of the face that holds the lower teeth in place. It's a large, horseshoe-shaped bone that forms the lower jaw and serves as a attachment point for several muscles that are involved in chewing and moving the lower jaw.

In addition to the mandible, the upper jaw is composed of two bones known as the maxillae, which fuse together at the midline of the face to form the upper jaw. The upper jaw holds the upper teeth in place and forms the roof of the mouth, as well as a portion of the eye sockets and nasal cavity.

Together, the mandible and maxillae allow for various functions such as speaking, eating, and breathing.

"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.

It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.

Panoramic radiography is a specialized type of dental X-ray imaging that captures a panoramic view of the entire mouth, including the teeth, upper and lower jaws, and surrounding structures. It uses a special machine that rotates around the head, capturing images as it moves. This technique provides a two-dimensional image that is helpful in diagnosing and planning treatment for various dental conditions such as impacted teeth, bone abnormalities, and jaw disorders.

The panoramic radiograph can also be used to assess the development and positioning of wisdom teeth, detect cysts or tumors in the jaws, and evaluate the effects of trauma or injury to the mouth. It is a valuable tool for dental professionals as it allows them to see a comprehensive view of the oral structures, which may not be visible with traditional X-ray techniques.

It's important to note that while panoramic radiography provides valuable information, it should be used in conjunction with other diagnostic tools and clinical examinations to ensure accurate diagnosis and treatment planning.

The cause of cherubism is believed to be from a mutation of gene of SH3BP2. Cherubism has also been found combined with other ... Cherubism is autosomal dominantly linked. Cherubism has also been found from the random mutation of a gene in an individual ... Cherubism GeneReviews/NIH/UW entry on Cherubism Lisle DA, Monsour PA, Maskiell CD (August 2008). "Imaging of craniofacial ... Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the ...
CHS1 Cherubism; 118400; SH3BP2 Chilblain lupus; 610448; TREX1 CHILD syndrome; 308050; NSDHL Chloride diarrhea, congenital, ...
It is also associated with cherubism. SH3 domain GeneReviews/NCBI/NIH/UW entry on Cherubism SH3BP2+protein,+human at the U.S. ...
Cherubism Dysplasia McCune-Albright syndrome Tafti, Dawood; Cecava, Nathan D. (2018-12-18). "Fibrous Dysplasia". NCBI Bookshelf ...
Cherubism is a rare autosomal dominant condition caused by mutations in the SH3BP2 gene. Patients afflicted have symmetrical ... Treacher Collins syndrome, cherubism and Stickler syndrome are all examples of rare genetic conditions that cause facial ... cherubism, or oligodontia/ectodermal dysplasia-a comparative study". Quality of Life Research. 24 (4): 927-35. doi:10.1007/ ... Cherubism, Crouzon syndrome, Pfeiffer Syndrome, Craniosynostosis, or Goldenhar Syndrome. Other applications include corrections ...
Buraq Cherubism (medical condition) Gandharva List of angels in theology Kamadeva Lamassu Merkabah mysticism "cherub". Random ...
pre and post operative Diagnosis of developmental anomalies such as cherubism, cleido cranial dysplasia Carcinoma in relation ...
Ameloblastoma Odontogenic myxoma Hemangioma Central odontogenic fibroma Brown tumour of hyperparathyroidism Cherubism ...
Cheilitis glandularis Chemke-Oliver-Mallek syndrome Chemodectoma Chemophobia Chen-Kung Ho-Kaufman-Mcalister syndrome Cherubism ...
... cherubism MeSH C05.116.099.708.375.372 - fibrous dysplasia, monostotic MeSH C05.116.099.708.375.381 - fibrous dysplasia, ...
... cherubism MeSH C16.131.621.207.540.460 - jaw abnormalities MeSH C16.131.621.207.540.460.185 - cleft palate MeSH C16.131.621.207 ...
Cherubism COPA defect Otulipenia/ORAS The complement system is part of the innate as well as the adaptive immune system; it is ...
Amyloidosis Drugs Phenytoin Calcium channel blockers Ciclosporin Allergy Angioedema Infective HPV Fibro-osseous Cherubism ...
... cherubism Carrie (Kiruna Stamell), unemployed, 29 years old, dwarfism "Cast Offs (TV Series)". "Cast Offs". 3 October 2015. " ...
Due to his cherubism, a medical condition resulting in an enlarged jawline, Z'dar had a unique and easily recognizable look ...
The cause of cherubism is believed to be from a mutation of gene of SH3BP2. Cherubism has also been found combined with other ... Cherubism is autosomal dominantly linked. Cherubism has also been found from the random mutation of a gene in an individual ... Cherubism GeneReviews/NIH/UW entry on Cherubism Lisle DA, Monsour PA, Maskiell CD (August 2008). "Imaging of craniofacial ... Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the ...
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Explore symptoms, inheritance, genetics of this ... Von Wowern N. Cherubism: a 36-year long-term follow-up of 2 generations in different families and review of the literature. ... Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the ... Most people with cherubism have few, if any, signs and symptoms affecting other parts of the body. Rarely, however, this ...
SH3BP2 Gene Mutation in a Korean Patient with Cherubism Alternative Author(s). Lee, Ha-Hyung. Affiliation. 조선대학교 대학원 Department ... Cherubism is a rare autosomal dominant inherited condition caused by mutations in the c-Abl-binding protein SH3BP2. It is ... Additionally, as the Pro418Arg mutation had been reported as causing cherubism, it represents a mutational hotspot. ... Cherubism 환자에서 SH3BP2 유전자 돌연변이.pdf 기타 데이터 / 257.37 kB / Adobe PDF ...
CARDOSO, Juliana Andrade et al. Occurrence of cherubism in two brothers: cases report. RFO UPF [online]. 2012, vol.17, n.3, pp ... Keywords : Genetics.; Giant cells.; Cherubism.; Radiography.; Diagnosis.. · abstract in Portuguese · text in Portuguese · pdf ... Based on the family history, and the clinical and imaging characteristics of the patient, the diagnosis of cherubism was ... Objective: This study aims to report two clinical cases of cherubism in relatives, conducting a literature review and ...
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In fact, fibrous dysplasia of the jaw has its own name - cherubism. ...
8. Cherubism With approximately 200 cases of the condition reported worldwide (primarily boys), cherubism is a rare disorder ... Usually, cherubism heals by itself as the child grows. However, in extremely rare cases, it may persist into adulthood. ...
Cherubism: A rare case report. Manpreet Kaur1, Sonali Shah1, Prashant Babaji2, Jaideep Singh3, Divya Nair4, Suresh S Kamble51 ...
11-7321 was used in Flow cytometry/Cell sorting to demonstrate that Sh3bp2 "cherubism mice exhibit trabecular bone loss, TNF- ... Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. ...
PARsylation-mediated ubiquitylation: lessons from rare hereditary disease Cherubism. Matsumoto, Y. & Rottapel, R., 5月 2023, In ...
Cherubism. SH3-binding protein 2/SH3-binding protein 2. Type 6: Macrophage activation. Familial hemophagocytic ...
Cherubism Whats New Last Posted: Mar 02, 2022 * Genome-wide analysis of copy number variants and normal facial variation in a ...
Cherubism (MIM 118400; chromosome arm 4p16.3). * Prader-Willi syndrome (MIM 176270; chromosome arm 15q11-13) ...
Cherubism, Cotton Wool Appearance. *Radiographic Appearance of Malignant Tumors Of Jaw. *Multilocular Radiolucencies ...
The keywords used for search were adolescent, cherubism, cherubism/physiopathology, cherubism/treatment, cherubism/radiography ... Conclusions: Despite the exceptions, cherubism is a clinically well-characterized disease. In cases of a suspicion of cherubism ... Objectives: Cherubism is a congenital childhood disease of autosomal dominant inheritance. This disease is characterized by ... The purpose of present paper was to review the literature and to report the most important aspects of cherubism in order to ...
Cherubism: Rare fibro-osseous dysplasia , Yaroslav Grusha. * Sphenoid wing meningioma: Complex cases , Anouk Borg ...
Pharmacological management of cherubism: A systematic review. Cailleaux, Pierre-Emmanuel; Porporatti, André Luís; Cohen-Solal, ... Overall, 18 cherubism patients were treated. The sample size in each case study ranged from one to three subjects. This review ... Objective: The aim of this systematic review was to determine if there exists an efficacious drug treatment for cherubism, ... Conclusions: The present systematic review could not identify an effective treatment for cherubism due to the heterogeneity and ...
Multifocal involvement fortnite aimbot undetected free trial seen in hyperparathyroidism, cherubism or Noonan syndrome 21, 22. ...
Gingival fibromatosis combined with cherubism - See Ramon Syndrome. *Gingival fibromatosis with craniofacial dysmorphism - See ...
Clinical and imagiological findings of central giant cell lesion and cherubism. Brazilian Dental Journal, v. 24, n. 1, p. 74-79 ...
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His top areas of expertise are Osteochondroma, Cherubism, Mouth Ulcers, Mouth Sores, and Osteotomy. Dr. Roser is currently ...
Multiquadrant radiolucent lesions of the jaws characterize cherubism, an autosomal dominantly inherited condition with variable ... cherubism, and, less commonly, a number of inherited syndromes including Noonan syndrome, neurofibromatosis type-1. Brown ...
Jafarov T, Ferimazova N, Reichenberger E. Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. Clin ...
Lec 52 - Cherubism. Lec 53 - Removal of Root Fragments From Maxillary Sinus. ...
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