O cerubismo é uma doença genética rara, que se manifesta na infância e adolescência. Ela é caracterizada pelo crescimento progressivo (que piora com o tempo) e bilateral (nos dois lados) dos ossos e tecidos da mandíbula (osso do queixo) e/ou da maxila (osso da parte superior do rosto), com intensidades variadas. A doença geralmente se resolve sozinha ou para de evoluir por conta própria e pode causar problemas de saúde em casos graves.
Introdução
O que você precisa saber de cara
O cerubismo é uma doença genética rara, que se manifesta na infância e adolescência. Ela é caracterizada pelo crescimento progressivo (que piora com o tempo) e bilateral (nos dois lados) dos ossos e tecidos da mandíbula (osso do queixo) e/ou da maxila (osso da parte superior do rosto), com intensidades variadas. A doença geralmente se resolve sozinha ou para de evoluir por conta própria e pode causar problemas de saúde em casos graves.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism
Cherubism
An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.
Variantes genéticas (ClinVar)
165 variantes patogênicas registradas no ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Querubismo
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
2 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.
In patients afflicted with the autosomal dominant hereditary tumor predisposition syndrome neurofibromatosis type 1 (NF1), central giant cell granuloma of the jaw (CGCG) is observed in rare cases. In NF1, the lesion is caused by mutations in the NF1 gene. The report summarizes the diagnosis, treatment and follow-up of 2 NF1 patients and provides a brief evaluation of case reports on NF1-associated CGCG. Both females with CGCG (age: 14 and 22 years) had either one or more jaw lesions. The lesions were removed with curettage to avoid dental injuries. In both cases, recurrences occurred, which led to re-ossification of the mandible through repeated surgical procedures after several years. The literature review based on 33 sufficiently documented cases shows clear differences between genders concerning the number of affected individuals in NF1. In addition, age at diagnosis of CGCG differed between NF1 patients compared to other RASopathies, namely Noonan syndrome. Cherubism-like lesions with tissue examination have only rarely been described in NF1 patients. In many reported cases surgical treatments were successful. However, in individual cases significantly mutilating interventions have been carried out, which raises questions about alternative treatment options. The proportion of purely diagnostic procedures without information about the further course is significant and limits information about the prognosis. NF1-associated CGCG have predominantly been treated surgically. In these patients, CGCG can also be expected beyond adolescence. The examination of NF1 patients should include the assessment of potential facial manifestations with appropriately selected imaging. Long-term monitoring of the findings is mandatory.
Cherubism: An African-Focused Review.
Cherubism is a rare fibro-osseous disorder of the jaws that typically presents in early childhood and is recognised as genetically heterogeneous. While the condition is well described in non-African populations, African data and molecular confirmation remain limited. This structured narrative review aimed to synthesize published African cases of cherubism by describing patterns of presentation, diagnosis, management, and genetic investigation. A structured narrative literature review was conducted using PubMed, Scopus, Google Scholar, and African Journals Online. Peer-reviewed case reports and case series describing cherubism in African patients were included. Data extraction followed predefined criteria, capturing demographic features, age at onset and presentation, clinical, radiological and histological findings, management strategies, and the use of molecular genetic testing. Findings were synthesised descriptively. Fourteen studies reporting 20 individual cases from eight African countries were identified, with the majority originating from North Africa. Although symptom onset most commonly occurred in early childhood, the median age at presentation for management was 13.75 years, suggesting delayed access to care. Molecular genetic testing was reported in only two cases, while most diagnoses relied on clinical, radiological, and histopathological features. Surgical intervention was commonly described, with fewer cases managed conservatively. Within the limitations of a structured narrative review based predominantly on published case reports and case series, and constrained by the scarcity of molecularly confirmed cases, the available African literature on cherubism remains limited in scope, geographically skewed, and characterised by incomplete genetic reporting. Recurring features include delayed presentation, reliance on clinical diagnosis, and limited use of molecular testing. These observations reflect gaps in reporting and genetic characterisation rather than population-level patterns, underscoring the need for improved molecular diagnostics, multidisciplinary care, and African registries.
Oral and Craniofacial Development and Immunology.
This chapter explores the intricate interplay between immune regulation and craniofacial development, emphasizing the critical role of the immune system in both normal and pathological conditions. The process of craniofacial development, from the formation of pharyngeal arches and facial prominences to palate formation, is outlined, highlighting the susceptibility of these structures to maternal immune disruptions.Key immune interactions at the maternal-fetal interface are discussed, focusing on immune tolerance mechanisms that safeguard the fetus from maternal immune rejection. Dysregulation of this immune balance, whether through maternal infections, inflammation, or nutritional deficiencies, can lead to significant craniofacial defects such as cleft lip and palate. The chapter delves into the teratogenic effects of infections, such as Campylobacter rectus, rubella, and cytomegalovirus (CMV), which disrupt gene expression and interfere with crucial developmental pathways.The chapter further examines immune-mediated craniofacial disorders, including spondyloenchondrodysplasia (SPENCD), cherubism, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), Langerhans Cell Histiocytosis (LCH), and juvenile idiopathic arthritis (JIA), explaining how immune dysfunction leads to abnormal bone remodeling and developmental anomalies. Finally, the chapter addresses preventive strategies, emphasizing the importance of maternal health optimization, adequate nutritional support, and early management of infections to mitigate the impact of immune dysregulation on craniofacial development. This comprehensive exploration provides a foundation for understanding the critical role of the immune system in oral and craniofacial development within the broader context of oral immunity.
The bone phenotype associated with cherubism is independent of Caspase-1-dependent inflammasome activation in the mouse.
Cherubism is a rare genetic disorder caused by SH3BP2 mutations. This sterile autoinflammatory disease is characterized by jaw osteolysis, in which bone tissue is replaced by multinucleated giant cells containing fibrous tissue. The cherubism mouse model (Sh3bp2 KI) is characterized by systemic bone loss as well as inflammatory phenotypes induced and maintained by TNFα. IL-1β, produced by the NRLP3 inflammasome through recruitment of Caspase-1, is involved in the development of sterile autoinflammatory disease. We previously reported a cherubism patient with elevated serum IL-1β, and cherubism mice also have elevated serum IL-1β levels. Thus, we wanted to disentangle the role of IL-1β in cherubism. To that end, we deleted Caspase-1 in Sh3bp2 KI mice to tamp down IL-1β production. However, deleting Caspase-1 did not rescue the systemic bone and inflammatory phenotypes.
Late-Onset Nonhereditary Cherubism: First Reported Case in Ghana With Review of Diagnostic and Management Challenges.
Cherubism is a rare genetic disorder characterised by multilocular cystic lesions in the mandible and/or maxilla, which result in the typical cherub-like face. Two forms of cherubism exist-hereditary (familial) and nonhereditary (nonfamilial)-and it usually occurs amongst children aged 2-7 years. The disorder is caused by a mutation in the SH3BP2 gene on Chromosome 4p16.3, essential for jaw development. The prognosis of cherubism shows that lesions increase in size and plateau at puberty, after which the lesions begin to regress and become undetectable. We present the first case of cherubism to be reported from Ghana. Our case is a nonhereditary (nonfamilial) cherubism in a 21-year-old Ghanaian woman. The patient presented with bilateral asymmetrical facial swelling, jaw pain, trismus, toothache, tooth mobility and tooth loss. Also, the patient had facial disfigurement, weight loss, cough, headache, seizures and dizziness. Her family history was noncontributory. The results of a head computed tomography (CT) scan indicated chronic left sphenoid sinusitis and an enlargement of the entire mandible, with multilocular expansile lytic (soap bubble) appearance. The mandibles had ground glass matrix areas associated with subtle cortical destruction and dental deformities suggestive of Grade III cherubism. Our patient had the onset of the disorder at age 12 but presented to the hospital at the age of 21. The reason why our patient did not seek medical help beforehand could be attributed to sociocultural beliefs, financial constraints and/or limited access to healthcare amenities. Treatment protocols for cherubism may include observation, surgery and medical therapy. Our patient resorted to the use of traditional medicine and spiritual/religious consultations for treatment. Our patient experienced discrimination due to the disease and had lost job, friendship and romantic relationship opportunities because of cultural beliefs, stereotypes and stigmatisation. Her facial disfigurement and the deformities are associated with bad omens and negative spirits in Ghana. When diagnosed, patients suffering from cherubism must be encouraged to seek information, education and appropriate individualised evidence-based management from hospitals. Treatment of the disease should be supported with psychological counselling and community sensitisation wherever possible.
Publicações recentes
[Clinicopathological and genetic analysis of six cases with cherubism].
The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action Group.
Denosumab treatment in a sporadic case of cherubism: a rare pediatric fibro-osseous disorder.
📖 RevisãoOssification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.
Cherubism: An African-Focused Review.
📚 EuropePMC439 artigos no totalmostrando 154
Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.
Cancer diagnosis & prognosisCherubism: An African-Focused Review.
Children (Basel, Switzerland)Oral and Craniofacial Development and Immunology.
Advances in experimental medicine and biologyLate-Onset Nonhereditary Cherubism: First Reported Case in Ghana With Review of Diagnostic and Management Challenges.
Case reports in radiologyCherubism in a 4-Year-Old Boy: A Clinical, Radiological, and Genetic Report.
Case reports in dentistryComparative analysis of osteoclast function in symptomatic and asymptomatic individuals with cherubism-causing SH3BP2 mutation.
JBMR plusImatinib For Treatment of Multifocal Maxillofacial Giant Cell Lesions: A Case Series.
Journal of pediatric hematology/oncologyImaging cherubism: Radiologic hallmarks of a rare jaw anomaly.
Radiology case reportsEvaluating diagnostic uncertainty and the role of surgical management in cherubism: a review of nine cases.
Oral surgery, oral medicine, oral pathology and oral radiologyThe bone phenotype associated with cherubism is independent of Caspase-1-dependent inflammasome activation in the mouse.
PloS oneSuccessful treatment of adult cherubism with a 60 mg denosumab 6-monthly regimen.
JBMR plusAutoinflammatory Bone Diseases.
Balkan medical journalTransconjunctival Orbital Decompression in Cherubism.
Ophthalmic plastic and reconstructive surgeryNot All Chubby Cheeks Are Cute: A Case of Cherubism.
CureusGenetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis.
International journal of molecular sciencesPLCG2 variants in cherubism.
The Journal of allergy and clinical immunologyUnraveling Cherubism: Examining the Classical "Eye to Heaven" Phenomenon.
CureusSuccessful Management of Cherubism Patient With Staged Bone Grafting and Fat Grafting.
The Journal of craniofacial surgeryNonfamilial cherubism in a 6-month-old infant: a case report.
BMC pediatricsLoss-of-function OGFRL1 variants identified in autosomal recessive cherubism families.
JBMR plusCherubism Unmasked: A Case Report of Clinical and Histopathological Presentation.
CureusImpact of Multimodal Rehabilitation Protocol in a 20-Year-Old Patient With Cherubism Undergone Facial Surgery: A Rare Case Report.
CureusThoughts on the Etiology of Cherubism.
Journal of clinical medicineELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.
American journal of medical genetics. Part ACherubism: Cone-Beam Computed Tomography Findings in Two Siblings.
CureusSurgical management of severe cherubism persisting into early adulthood: a case report and literature review.
Archives of craniofacial surgeryLoss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
European journal of human genetics : EJHGGenetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
Molecular biology reportsClinico-radiological features of cherubism.
BMJ case reportsTreatment of Progressive Cherubism during the Second Dental Transitional Phase with Calcitonin.
Case reports in dentistryCurrent concepts in targeted therapies for benign tumors of the jaw - A review of the literature.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryEfficacy and Toxicity of Calcitonin Treatment in Children with Cherubism: A Single-Center Cohort Study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchSurgical management of mandibular cherubism in an adolescent: integration of virtual surgical planning.
BMJ case reportsInfantile Hemangioma of the Upper Lip: Report of a Rare Case With a Brief Review of Literature.
CureusDNA methylation profile discriminates sporadic giant cell granulomas of the jaws and cherubism from their giant cell-rich histological mimics.
The journal of pathology. Clinical researchTankyrase: a promising therapeutic target with pleiotropic action.
Naunyn-Schmiedeberg's archives of pharmacologyPediatric Gnathic Bony and Mesenchymal Tumors.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyPharmacological management of cherubism: A systematic review.
Frontiers in endocrinologyPARsylation-mediated ubiquitylation: lessons from rare hereditary disease Cherubism.
Trends in molecular medicineE3-ubiquitin ligases and recent progress in osteoimmunology.
Frontiers in immunologySynchronous jawbone diseases: a multicenter retrospective study.
Brazilian oral researchA new TRPV4 mutation in a case of multiple central giant cell granulomas of the jaws.
Oral surgery, oral medicine, oral pathology and oral radiologyQuality of life in monogenic autoinflammatory diseases. A review.
Joint bone spineSinonasal Manifestations of Severe Cherubism: A Case with 11-year Follow-up.
Ear, nose, & throat journalBilateral expansion of mandible and maxillae in a 5-year-old girl.
Clinical case reportsA Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome.
Journal of investigative medicine high impact case reportsBiallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.
Clinical geneticsCherubism: a rare case report with literature review.
Radiology case reportsDenosumab Therapy in Cherubism.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationLymphangioma of the Lower Lip-A Diagnostic Dilemma: Report of a Rare Case with a Brief Literature Review.
Case reports in dentistryGiant Cell Lesions of the Jaws Involving RASopathy Syndromes.
Acta stomatologica CroaticaPremature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.
International journal of environmental research and public health[Cherubism in three siblings].
Orvosi hetilapSevere Cherubism Treated with Curettage, Osteotomy, and Bony Repositioning: A Case Series of Three Patients.
Plastic and reconstructive surgery. Global openTlr2/4-Mediated Hyperinflammation Promotes Cherubism-Like Jawbone Expansion in Sh3bp2 (P416R) Knockin Mice.
JBMR plus[Bilateral giant cell central granuloma of the jaws in a Noonan syndrome: About one case with emphasizing on bone giant cell lesions of the jaws].
Annales de pathologieGenome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans.
HGG advancesSurgical Treatment of Cherubism With the Use of ThreeDimensional Virtual Planning and CAD-CAM Resection Guides: A Case Report and Systematic Literature Review.
The Journal of craniofacial surgeryImatinib has minimal effects on inflammatory and osteopenic phenotypes in a murine cherubism model.
Oral diseasesCherubism and anaesthesia.
Anaesthesiology intensive therapySH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review.
International journal of oral and maxillofacial surgeryNeurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.
In vivo (Athens, Greece)Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?
BoneUnusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.
Journal of pediatric geneticsAngioid streaks and optic disc drusen in cherubism: a case report.
Arquivos brasileiros de oftalmologiaLate reactivation of cherubism in an adult further to local inflammation.
Journal of stomatology, oral and maxillofacial surgeryAdjuvant Alendronic Acid in the Management of Severe Cherubism: A Case Report and Literature Review.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsCherubism with orbital involvement.
Indian journal of ophthalmologyInsights of tankyrases: A novel target for drug discovery.
European journal of medicinal chemistryCherubism as a systemic skeletal disease: evidence from an aggressive case.
BMC musculoskeletal disordersA Clinical Perspective on Advanced Developments in Bone Biopsy Assessment in Rare Bone Disorders.
Frontiers in endocrinologyPositive Outcomes of Denosumab Treatment in 2 Patients With Cherubism.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsEfficacy and safety of denosumab treatment in a prepubertal patient with cherubism.
Journal of pediatric endocrinology & metabolism : JPEMBiallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
Human mutationCherubism: a systematic literature review of clinical and molecular aspects.
International journal of oral and maxillofacial surgeryIf case reports be the food of knowledge, write on: our Cases of the Quarter.
The journal of the Royal College of Physicians of EdinburghMicrobe-Dependent Exacerbated Alveolar Bone Destruction in Heterozygous Cherubism Mice.
JBMR plusOrthodontic treatment in a patient with cherubism: Benefits and limitations.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistrySyndromes with gingival fibromatosis: A systematic review.
Oral diseasesRANKL-independent osteoclastogenesis in the SH3BP2 cherubism mice.
Bone reportsInvestigating global gene expression changes in a murine model of cherubism.
BoneClinical and radiological evaluation of cherubism: A rare case report.
Radiology case reportsGiant Cell Lesions of the Jaws:A Review and Comparative Histopathological Study.
West African journal of medicineBone dynamics and inflammation: lessons from rare diseases.
Immunological medicineSoft Tissue Special Issue: Giant Cell-Rich Lesions of the Head and Neck Region.
Head and neck pathologyRamon Syndrome- A Rare Form of Cherubism.
Annals of maxillofacial surgery[Unique Experience of Cherubism Targeted Therapy].
Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsinyNon Familial Cherubism: A Case Report.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaUse of Denosumab in Children With Osteoclast Bone Dysplasias: Report of Three Cases.
JBMR plusTrue Unilateral Mandibular Cherubism: A Literature Review and Case Report.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsRegional Lymph Node Enlargement in Clinically Severe Cherubism.
Clinical pathology (Thousand Oaks, Ventura County, Calif.)An Overview of the Derivation and Function of Multinucleated Giant Cells and Their Role in Pathologic Processes.
The American journal of pathologyClinicoradiologic follow up of cherubism with aggressive characteristics: a series of 3 cases.
Oral surgery, oral medicine, oral pathology and oral radiologyA Paradigm Shift in the Management of Cherubism? A Preliminary Report Using Imatinib.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsTankyrase (PARP5) Inhibition Induces Bone Loss through Accumulation of Its Substrate SH3BP2.
CellsCherubism: A Rare Fibro-Osseous Disorder Characterized and Diagnosed by one Stop Imaging with Technetium-99m Methylene Diphosphonate Bone Scintigraphy Integrated with Single-Photon Emission Computed Tomography-Computed Tomography.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaCherubism in 12 Year Young Female.
Annals of maxillofacial surgeryNovel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia.
Head & neckTankyrase Mediates K63-Linked Ubiquitination of JNK to Confer Stress Tolerance and Influence Lifespan in Drosophila.
Cell reportsEarly detection of cherubism with eventual bilateral progression: a literature review and case report.
Oral surgery, oral medicine, oral pathology and oral radiologyMolecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiation.
Orphanet journal of rare diseasesBilateral Central Giant Cell Granuloma of the mandibular angle in three females from the same family.
Head & face medicineOrthodontic management of a patient with cherubism: A case report.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsFamilial cherubism: clinical and radiological features. Case report and review of the literature.
European journal of paediatric dentistryDandy-Walker Syndrome with Giant Cell Lesions and Cherubism.
Annals of maxillofacial surgeryInnovative Surgical Treatment of Severe Cherubism.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMasses of developmental and genetic origin affecting the paediatric craniofacial skeleton.
Insights into imagingOrphan disease: Cherubism, optic atrophy, and short stature.
The Indian journal of radiology & imagingSecond-Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchUnusually Large Brown tumor of Mandible in a Case of Secondary Hyperparathyroidism Mimicking Cherubism.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaCherubism with idiopathic gingival enlargement: A rare case report.
Journal of Indian Society of PeriodontologyRescue of a cherubism bone marrow stromal culture phenotype by reducing TGFβ signaling.
BoneSOFAT as a Putative Marker of Osteoclasts in Bone Lesions.
Applied immunohistochemistry & molecular morphology : AIMMGnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).
BoneFibro-Osseous and Other Lesions of Bone in the Jaws.
Radiologic clinics of North AmericaHomozygous mutation in ELMO2 may cause Ramon syndrome.
Clinical geneticsClinical factors in prosthodontic treatment of children with genetic defects.
Advances in clinical and experimental medicine : official organ Wroclaw Medical UniversityBone involvement in monogenic autoinflammatory syndromes.
Rheumatology (Oxford, England)Cherubism Mice Also Deficient in c-Fos Exhibit Inflammatory Bone Destruction Executed by Macrophages That Express MMP14 Despite the Absence of TRAP+ Osteoclasts.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchSyk-dependent tyrosine phosphorylation of 3BP2 is required for optimal FcRγ-mediated phagocytosis and chemokine expression in U937 cells.
Scientific reportsWhat it feels like to have a facial disfigurement.
BMJ (Clinical research ed.)Craniofacial and Dental Features in Six Children With Cherubism.
The Journal of craniofacial surgeryBone-Related Lesions of the Jaws.
Surgical pathology clinicsClinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations.
Head and neck pathologyClinical and genetic analysis of patients with cherubism.
Oral diseasesNonfamilial cherubism: A case report and review of literature.
Journal of oral and maxillofacial pathology : JOMFPCase Report of Nonfamilial Cherubism in a Toddler: Description of Clinic-Radiographic Features and Osseous-Dental Treatments.
Case reports in medicineReciprocal stabilization of ABL and TAZ regulates osteoblastogenesis through transcription factor RUNX2.
The Journal of clinical investigationVasculitis in the autoinflammatory diseases.
Current opinion in rheumatologyNon-Familial Cherubism with Bilateral Maxilla and Mandible Involvement - Clinicoradiographic Findings.
CureusEarly Presentation of Cherubism.
Indian pediatricsDefining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism.
Human pathologyCherubism. A case report.
Reumatologia clinicaAneurismal bone cyst: a conservative surgical technique. A case report treated with a small access osteotomy.
European journal of paediatric dentistryCherubism: An Unusual Study With Long-Term Follow-Up.
The Journal of craniofacial surgeryCherubism: A Case Report with Surgical Intervention.
Anticancer research[Molecular and Cellular Pathogenesis of Cherubism].
Clinical calciumFibrous dysplasia and cherubism.
Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of IndiaCherubism With Bilateral Mandible and Maxilla Involvement: A Case Report.
MedicineBone markers in craniofacial bone deformations and dysplasias.
Postepy higieny i medycyny doswiadczalnej (Online)Cherubism Study Results May Apply to Common Inflammatory Bone Diseases.
Dentistry today[Pre-auricular mass in a 38-year-old patient].
Laryngo- rhino- otologiePainless bilateral swelling of the face: think about cherubism.
Archives of disease in childhoodOral and Maxillofacial Pathology. Case of Month. Cherubism.
Texas dental journal[SH3BP2 heterozygous mutation amplifies macrophage inflammatory responses to infection in a mouse model of cherubism].
Medecine sciences : M/SCherubism misdiagnosed as giant cell tumor: a case report and review of literature.
International journal of clinical and experimental medicineA case of cherubism with spondyloarthropathy.
International journal of rheumatic diseasesLate Reactivation of Cherubism in a Patient With New-Onset Polycystic Ovary Syndrome.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsRecurrent cherubism in an adult patient.
The Journal of craniofacial surgeryCherubism in sub-saharan Africa: a first case-report in a child.
Rare tumorsCherubism: a case report.
Journal of maxillofacial and oral surgeryOphthalmic manifestations of cherubism.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusCherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages.
The Journal of clinical investigationOrthodontic treatment in cherubism: an overview and a case report.
Australian orthodontic journalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.
- Cherubism: An African-Focused Review.
- Oral and Craniofacial Development and Immunology.
- The bone phenotype associated with cherubism is independent of Caspase-1-dependent inflammasome activation in the mouse.
- Late-Onset Nonhereditary Cherubism: First Reported Case in Ghana With Review of Diagnostic and Management Challenges.
- [Clinicopathological and genetic analysis of six cases with cherubism].
- The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action Group.
- Denosumab treatment in a sporadic case of cherubism: a rare pediatric fibro-osseous disorder.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:184(Orphanet)
- OMIM OMIM:118400(OMIM)
- MONDO:0007315(MONDO)
- GARD:6036(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q568865(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
