Cherubism

01/01/2018 - "Our studies also implicate a role for TGFβ ligands in the etiology of cherubism. "
09/25/2014 - "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. "
12/01/2014 - "Studies on the mouse model for cherubism carrying a P416R knock-in (KI) mutation have revealed that mutant SH3BP2 enhances tumor necrosis factor (TNF)-α production and receptor activator of nuclear factor-κB ligand (RANKL)-induced osteoclast differentiation in myeloid cells. "
12/01/2020 - "Given the excess sensitivity of cherubism osteoclasts to RANKL (receptor activator of nuclear factor κB ligand) and the positive effects of denosumab (XGEVA; Amgen, Thousand Oaks, CA) treatment in patients with giant cell granuloma, we have designed a treatment based on denosumab for 2 cherubism patients that achieves what we consider promising results."

12/01/2020 - "Positive Outcomes of Denosumab Treatment in 2 Patients With Cherubism."
12/01/2023 - "The present case demonstrates the achievement of symptomatic control with denosumab in a child with severe refractory cherubism."
07/28/2020 - "Conclusions The present case demonstrated the therapeutic potential of denosumab for treatment of cherubism, although adverse effects, especially those on childhood growth, remain obscure. "
07/28/2020 - "Case presentation We report the efficacy and safety of denosumab treatment in a prepubertal boy with progressive cherubism. "
07/28/2020 - "Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism."

01/01/2018 - "Second-Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model."

09/25/2014 - "Studies of cherubism mice showed that tumor necrosis factor α (TNF-α)-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. "
01/01/2013 - "Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children."
01/01/2014 - "We identified a critical role of tumor necrosis factor α (TNF-α) in the development of autoinflammation by creating homozygous TNF-α-deficient cherubism mutants, in which systemic inflammation and bone destruction were rescued. "
01/12/2007 - "We demonstrate that Sh3bp2 "cherubism" mice exhibit trabecular bone loss, TNF-alpha-dependent systemic inflammation, and cortical bone erosion. "
12/01/2014 - "Studies on the mouse model for cherubism carrying a P416R knock-in (KI) mutation have revealed that mutant SH3BP2 enhances tumor necrosis factor (TNF)-α production and receptor activator of nuclear factor-κB ligand (RANKL)-induced osteoclast differentiation in myeloid cells. "

06/01/2016 - "Genetic study of cherubism families discovered that gain-of-function mutations in the signaling adaptor protein SH3BP2 are responsible for cherubism. "
03/01/2018 - "Cherubism is a rare autosomal dominant condition affecting the jaws and caused by mutations in the gene encoding for the adapter protein SH3BP2 that maps to chromosome 4p16.3. Cherubism is characterized by symmetrically developing bone lesions in the maxilla and mandible. "
10/01/2017 - "Cherubism is an autosomal-dominant benign bone disorder, characterized by fibro-osseous lesions in the mandible and maxilla commonly caused by mutations in the SH3-binding protein 2-gene. "
12/01/2016 - "Last, we have provided genetic data showing that regulation of the ABL-TAZ amplification loop lies downstream of the adaptor protein 3BP2, which is mutated in the craniofacial dysmorphia syndrome cherubism. "
05/24/2012 - "Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. "

11/01/1998 - "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. "
10/12/2023 - "Calcitonin treatment seems effective and tolerable in treating actively progressing cherubism in children. "
10/12/2023 - "In this retrospective study, we present data on the radiological response and adverse effects of subcutaneously administered calcitonin in a cohort of nine cherubism children (three female, six male). "
10/12/2023 - "Efficacy and Toxicity of Calcitonin Treatment in Children with Cherubism: A Single-Center Cohort Study."
01/01/2023 - "Treatment of Progressive Cherubism during the Second Dental Transitional Phase with Calcitonin."

04/01/2023 - "In this study, we tested the effects of imatinib using a cherubism mouse model. "
04/01/2023 - "The in vivo administration of imatinib had a minimal therapeutic impact in cherubism mutant mice. "
04/01/2023 - "Imatinib has minimal effects on inflammatory and osteopenic phenotypes in a murine cherubism model."
07/01/2023 - "Imatinib, a tyrosine kinase inhibitor, was prescribed based on clinical similarities between CGCJ and cherubism, for which Imatinib has been effective. "
04/01/2023 - "The cherubism mutant macrophages produced higher levels of TNFα in response to lipopolysaccharide compared to wild-type macrophages, and imatinib did not significantly suppress TNFα production. "

05/01/2011 - "A total of 14 formalin-fixed and paraffin-embedded tissue samples of CGCL (n=4), PGCL (n=5), BTH (n=3) and cherubism (n=2) were included in the study. "
04/01/2009 - "Genomic DNA was extracted from paraffin-imbedded tissues and peripheral blood samples of 10 cases of cherubism (6 familial cherubism and 4 sporadic cherubism). "
04/01/2008 - "Lesional mononuclear stromal or spindle cells were microdissected from paraffin-embedded tissue from GCGJ, and DNA was then extracted and sequenced for SH3BP2 mutations associated with cherubism. "

07/01/2014 - "The mutation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9. The present study emphasized the importance of further clinical and molecular investigation even when only a single case of cherubism is identified within a family. "
09/01/2011 - "Here we showed the effect of the proline to arginine substitution of 3BP2 in which is the most common mutation in patients with cherubism (P418R) on B-cell receptor signaling. "

07/01/2003 - "Immunohistochemical study with a panel of antibodies including vacuolar H+-ATPase (V-ATPase), carbonic anhydrase II (CA II), Cathepsin K, matrix metalloproteinases-9 (MMP-9), CD68, and proliferating cell nuclear antigen (PCNA), and enzyme histochemical staining for tartarate-resistant acid phosphatase (TRAP) were applied on a total number of 53 cases of giant cell-containing lesions including CGCG (n = 34), PGCG (n = 6), cherubism (n = 7), and ABC (n = 6). "
06/01/2005 - "The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05). "

01/01/2023 - "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. "
12/01/2020 - "Treatment options for cherubism range from observation to surgical correction and various pharmacologic therapies. "
08/01/2019 - "[Unique Experience of Cherubism Targeted Therapy]."
05/01/2015 - "We present the first case of effective medical therapy in cherubism. "
07/01/2013 - "Here, we describe a case of cherubism in a 4-year-old child with swelling on both sides of mandible with clinic radiographic features and suggestions for therapy. "

09/01/2013 - "This report highlights the benefit of medical hypnosis in facilitating CPAP acceptance as well as the efficacy of mouthpiece ventilation in a severe form of cherubism with complete nasal obstruction."
09/01/2013 - "Nocturnal mouthpiece ventilation and medical hypnosis to treat severe obstructive sleep apnea in a child with cherubism."

05/01/2015 - "Several treatment protocols for cherubism have been recommended in the literature; however, despite surgical curettage treatment, recurrences may occur. "
06/01/2007 - "Although cherubism tends to abate by the fourth decade of life, early 2-stage surgical curettage provides a simple and reliable treatment that not only delivers immediate results, but also seems to arrest the growth of any remaining cherubic tissue."
06/01/2005 - "Of these, no treatment was carried out in five cases, cherubism resolved (three cases) or grew slowly (two cases); curettage or surgical contouring was performed in seven cases, during the rapid growth of the lesions. "
07/01/1967 - "Cherubism treated by curettage and autogenous bone chips: report of case."
04/01/2022 - "Erratum: Severe Cherubism Treated with Curettage, Osteotomy, and Bony Repositioning: A Case Series of Three Patients-Erratum."

01/01/2019 - "The present case is innovative because this is the first reported case of recontouring orbital floors with resorbable plates and infracturing of the mandible using sagittal split osteotomies for surgical treatment of cherubism."
04/01/2022 - "Erratum: Severe Cherubism Treated with Curettage, Osteotomy, and Bony Repositioning: A Case Series of Three Patients-Erratum."
01/01/2022 - "In this article, we present three cases of moderate to severe cherubism managed with early surgical intervention utilizing curettage and osteotomy followed by bony repositioning. "
01/01/2022 - "Severe Cherubism Treated with Curettage, Osteotomy, and Bony Repositioning: A Case Series of Three Patients."

09/05/2023 - "We present an adolescent female with a family history of cherubism who presented to the Oral and Maxillofacial Surgery clinic with progressive bilateral swelling of the mandible. "
08/01/2019 - "For four years, a child with cherubism was undergoing an outpatient supervision in the Department of Maxillofacial Surgery in Russian Children Clinical Hospital. "