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 << Prev 50  Showing 1 to 28 of 28 Matches Next 50 >>

1. Neurofibromatosis presenting with a cherubism phenotype.
Match Strength: 16.987

We report on a child who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and cherubism. With genetic testing, we found a mutation in the NF-1 gene, confirming the neurocutaneous disorder. Histology when correlated with radiological evaluation of a mandibular biopsy was consistent with cherubism. This is the first report in the literature of a child with proven neurofibromatosis type 1 and cherubism without extragnathic lesions. This emphasises that cherubism is a clinical phenotype that can be associated with a number of germline mutations involving SH3BP2, PTPN11 and ... Read More »
» Published in Eur J Pediatr. 2006 Nov 21;

2. Cherubism in siblings: A case report.
Match Strength: 16.315

Cherubism is a benign disease of bones affecting the jaws and giving a characteristic cherubic appearance to the patient. On radiography, the lesions exhibit bilateral multilocular radiolucent areas. Histopathology shows numerous multinucleated giant cells in the background of proliferating fibrous connective tissue. Cherubism can be a solitary case. The present report describe cherubism in two siblings and briefly review the literature on this subject ... Read More »
» Published in J Indian Soc Pedod Prev Dent. 2007 Mar;25(1):27-9.

3. Cherubism and its charlatans.
Match Strength: 15.007

Cherubism is a rare hereditary condition characterised by progressive cystic proliferation of the mandible and maxilla in childhood, followed by post-pubertal involution of the process and jaw remodelling in adulthood. Its name is derived from the cherubic appearance that results from the jaw hypertrophy. Here, we present the case of a young boy with cherubism, in the context of his pedigree, to illustrate the clinical characteristics and their variable expression. We also seek to distinguish cherubism from central giant cell granuloma and giant cell tumour of the jaws, with which it holds a ... Read More »
» Published in Br J Plast Surg. 2001 Dec;54(8):708-11.

4. Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw.
Match Strength: 14.900

Giant cell granulomas of the jaw (GCGJ) are non-familial, generally unilateral osteoclast-rich lesions that are histopathologically indistinguishable from cherubism. Cherubism is an autosomal dominant disease that is characterised by bilateral radiolucencies of the jaw, and caused by mutations that occur in SH3BP2 exon 10. The aim of the study was to screen lesional GCGJ tissue for SH3BP2 mutations. 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. ... Read More »
» Published in Br J Oral Maxillofac Surg. 2007 Jun 1;

5. Jawing about TNF: New Hope for Cherubism.
Match Strength: 14.683

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. () 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 ... Read More »
» Published in Cell. 2007 Jan 12;128(1):15-7.

6. A prosthetic treatment approach for a cherubism patient: A clinical report.
Match Strength: 14.683

Cherubism is an early childhood disease that primarily involves the mandible and consists of painless mandibular enlargement with or without maxillary involvement and progresses rapidly over the course of several years. This clinical report describes the fabrication of maxillary fixed partial dentures and a mandibular overdenture for a 21-year-old man with cherubism. Publication Types: Case ... Read More »
» Published in J Prosthet Dent. 2006 Nov;96(5):313-6.

7. The aggressive form of cherubism: report of two cases in unrelated families.
Match Strength: 14.412

Cherubism is a benign lesion that causes painless symmetrical enlargement of the jaws, usually with a familial tendency. We describe in two Chinese families two cases of the aggressive form of cherubism with extensive swelling on both sides of the mandible, typical microscopic findings, and apparent familial history. Publication Types: Case Reports, Research Support, Non-U.S. Gov ... Read More »
» Published in Br J Oral Maxillofac Surg. 2006 Aug;44(4):322-4. Epub 2005 Nov 28.

8. Fine-needle aspiration cytological features of Cherubism.
Match Strength: 14.358

Cherubism is a rare benign, non-neoplastic condition characterized by facial alteration due to symmetrically expansion of bilateral mandibles and maxillas. A fine-needle aspiration of a right cheek mass was performed in a 17-year-old teenager who was previously diagnosed Cherubism. The smears showed moderate cellularity with spindle cells mixed with multinucleated giant cells of osteoclast type. The cells appeared bland with normal nuclear/cytoplasm ratio. The nuclei were round or oval with smooth nuclear membranes and fine, evenly distributed chromatin. These cytologic features were ... Read More »
» Published in Diagn Cytopathol. 2008 Mar;36(3):188-9.

9. A novel mutation of the SH3BP2 gene in an aggressive case of cherubism.
Match Strength: 14.048

Cherubism is an autosomal dominant inherited syndrome characterized by excessive bone degradation of upper and lower jaw and its replacement with large amounts of fibrous tissue, which causes a characteristic facial swelling. A correlation with a mutation in the gene SH3BP2 has been previously demonstrated, but a model for its pathogenesis is not yet available. Here we describe a novel mutation in an aggressive case of cherubism located in the pleckstrin homology domain (PH) of the SH3BP2 ... Read More »
» Published in Oral Oncol. 2007 Mar 14;

10. Radiographic, CT and MRI features of cherubism.
Match Strength: 13.988

Cherubism is a paediatric disease affecting the jaws. It is a close radiological mimic of giant cell lesions of the mandible. The radiographic features of this condition are well known; however, the MR imaging features have not been well described. We describe the radiographic, CT and MR imaging features of cherubism in a 5-year-old girl. We highlight the MR appearances of cherubic lesions and the ability of MRI to not only accurately depict the anatomical extent of the lesions, but also to reveal signal intensity changes in those areas that are apparently normal on radiographs and CT images ... Read More »
» Published in Pediatr Radiol. 2006 Oct;36(10):1099-104. Epub 2006 Jul 18.

11. Cherubism: long-term follow-up of 2 patients in whom it regressed without treatment.
Match Strength: 13.768

Cherubism is a rare hereditary, self-limiting fibrous dysplasia characterised by painless enlargement of the jaws in childhood. Although, it is accepted that the lesions of cherubism are eventually replaced by bone, there have been few long-term follow-up reports with clinicoradiographic documentation of spontaneous remission of the disease, without treatment. We report two cases of cherubic boys who were followed for 17 and 19 years. Clinicoradiographic examination during this period showed regression of the disease without surgical correction ... Read More »
» Published in Br J Oral Maxillofac Surg. 2006 Oct 5;

12. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.
Match Strength: 13.494

We describe a novel missense mutation (Aspartic acid to Asparagine, p.D419N (g.1371G>A, c.1255G>A) within exon 9 of SH3BP2 in a patient with cherubism, an autosomal dominant syndrome characterized by excessive osteoclastic bone resorption of the jaw. Two siblings and the father were carriers but lacked phenotypic features. Transient expression of p.D419N (c.1255G>A), as well as three previously described exon 9 mutations from cherubism patients (p.R415Q (c.1244G>A), p.D420E (c.1259G>A), and p.P418R (c.1253C>G)) increased activity of NFAT (nuclear factor of activated T-cells), ... Read More »
» Published in Hum Mutat. 2006 Jul;27(7):717-8.

13. Aggressive case of cherubism: 17-year follow-up.
Match Strength: 13.380

Cherubism is an autosomal dominant disorder in which the normal bone is replaced by cellular fibrous and immature bone, resulting in painless symmetrical enlargement of the jaws. An aggressive case of cherubism with extensive swelling on several facial bones in a 19-year-old boy is reported. The disorder was diagnosed 15 years ago, but the patient has not been submitted to any type of surgery so far. The highlights of this case are the great proportion of the lesions, the enormous functional and emotional disturbances brought about by these lesions, and the difficulty to choose the most ... Read More »
» Published in Int J Pediatr Otorhinolaryngol. 2007 May;71(5):831-5. Epub 2007 Mar 13.

14. Frequency of USP6 rearrangements in myositis ossificans, brown tumor, and cherubism: molecular cytogenetic evidence that a subset of "myositis ossificans-like lesions" are the early phases in the formation of soft-tissue aneurysmal bone cyst.
Match Strength: 12.440

OBJECTIVE: USP6 rearrangements with several partner genes have been identified recently in primary but not in secondary aneurysmal bone cysts (ABCs). Several lesions show histologic features that may overlap with ABC, including myositis ossificans (MO), brown tumor, and cherubism. The objective of this study was to assess whether these lesions harbored USP6 rearrangements. MATERIALS AND METHODS: Twelve patients with classic radiologic and histologic features of MO, 6 with brown tumors, and 5 with cherubism diagnosed at our institution were studied for the presence of USP6 rearrangements using ... Read More »
» Published in Skeletal Radiol. 2008 Feb 12

15. Cherubism: a clinical, radiographic, and histopathologic comparison of 7 cases.
Match Strength: 12.380

PURPOSE: Cherubism is an uncommon fibro-osseous disorder of the jaws that presents with varying degrees of involvement and a tendency toward spontaneous remission. Lesions are characterized by replacement of bone with fibrovascular tissue containing abundant multinucleated giant cells. We attempted to study the relationships among the degree of cherubism, the radiographic extent of the jaw lesions, the histopathologic findings, and the clinical course of 7 patients. PATIENTS AND METHODS: In 7 patients diagnosed with cherubism, we evaluated the degree of fibrosis and perivascular cuffing, the ... Read More »
» Published in J Oral Maxillofac Surg. 2006 Jun;64(6):924-30.

16. Orbital involvement in cherubism.
Match Strength: 12.279

PURPOSE: To demonstrate the clinical, radiologic, and histopathologic features of a patient with orbital involvement in cherubism that prompted surgical treatment. DESIGN: Single interventional case report. INTERVENTION: Findings of the ophthalmic evaluation, computed tomography (CT) scans, intraoperative examination, and light microscopy of the specimens were analyzed. MAIN OUTCOME MEASURES: Globe displacement, orbital bony lesions detected on CT scans, histopathology, and postoperative results were assessed. RESULTS: A 27-year-old female was seen with a slowly progressive superonasal globe ... Read More »
» Published in Ophthalmology. 2001 Oct;108(10):1884-8.

17. DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma.
Match Strength: 11.928

A mutation of the SH3BP2 gene is known to cause cherubism. As there are clinical and histopathological similarities between central giant cell granuloma and cherubism, we made a constitutional DNA analysis of the SH3BP2 gene in four patients with aggressive giant cell granuloma (having one or more of the following features pain, paraesthesia, rapid growth, or root resorption). We found no mutations in the SH3BP2 gene, which indicates that cherubism is a separate entity. However, a somatic mutation in a specific group of cells could cause the focal lesions in giant cell granuloma. Further DNA ... Read More »
» Published in Br J Oral Maxillofac Surg. 2006 May 17;

18. Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features.
Match Strength: 11.903

Cherubism is a rare hereditary fibro-osseous childhood disease characterized by bone degradation and fibrous tissue replacement at the angles of the mandible and at the tuberosity areas of the maxilla that leads to prominence of the lower face and an appearance reminiscent of the cherub's portrayal in Renaissance art. This disease has an autosomal dominant hereditary characteristic. The purpose of this report is to analyse laboratory tests, clinicopathological and radiographic features of cherubism and its intraoral manifestations in a patient during 4-years of follow-up, correlating the ... Read More »
» Published in Dentomaxillofac Radiol. 2005 Sep;34(5):313-8.

19. Cherubism: case reports and literature review.
Match Strength: 10.588

Two new cherubism cases have been documented and reported. Both were relatively mild clinically, being a Grade I within Motamedi's I to V clinical grading system. Each presented with bilateral posterior mandibular lesions having a multiloculated radiolucent appearance. In each case, detection with eventual diagnosis evolved from a mandibular molar failing to erupt (tooth No. 19). The partial literature review documented the wide spectrum of clinical expression of this disease and the consequent wide variation in its treatment. Publication Types: Case Reports, ... Read More »
» Published in Dent Today. 2001 Nov;20(11):100-3.

20. SH3BP2 is rarely mutated in exon 9 in giant cell lesions outside cherubism.
Match Strength: 10.515

Giant cell tumor of bone and giant cell reparative granuloma are benign lesions with prominent giant (multinucleated) cells, and an understanding of the molecular biology and genetics of these lesions will likely aid in more effective treatment. Cherubism is a benign lesion of the maxilla and mandible histologically similar to giant cell tumor of bone and giant cell reparative granuloma. Germline mutations in exon 9 of the gene encoding Src homology 3 binding protein 2 (SH3BP2) occur in most patients with cherubism. We therefore hypothesized SH3BP2 and its putative downstream effector nuclear ... Read More »
» Published in Clin Orthop Relat Res. 2007 Jun;459:22-7.

21. Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: a previously undescribed association of findings.
Match Strength: 10.274

We present a patient with neurofibromatosis type 1, with the clinical, radiological and histological features of cherubism mandibular lesions, and multiple osteolytic, geographic lesions in both femurs, consistent with multiple non-ossifying fibromas. We have been unable to find a similar case in the world literature. We discuss our findings in relationship with a number of syndromes that present clinical, radiological or pathological similarities. Publication Types: Case ... Read More »
» Published in Skeletal Radiol. 2005 Dec;34(12):793-8. Epub 2005 Aug 11.

22. Two-stage surgical treatment of severe cherubism.
Match Strength: 9.586

Cherubism is an autosomal-dominant syndrome characterized by excessive bilateral maxillomandibular bony degeneration followed by fibrous tissue hyperplasia. Eight patients (age, 6-15 years; mean, 11 years) with severe cherubism were treated with a 2-stage operation by the same senior surgeon (C.M.R.-A.) over an 18-year period, 1987 through 2005. Severity was based on a modified Motamedi classification system. The diagnosis was established clinically, radiographically, and histologically. Postoperative follow up ranged from 2 to 18 years (mean, 5.1 years). All patients underwent 2-stage ... Read More »
» Published in Ann Plast Surg. 2007 Jun;58(6):645-51.

23. Increased Myeloid Cell Responses to M-CSF and RANKL Cause Bone Loss and Inflammation in SH3BP2 "Cherubism" Mice.
Match Strength: 9.569

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 ... Read More »
» Published in Cell. 2007 Jan 12;128(1):71-83.

24. Clinicopathologic study of 24 cases of cherubism.
Match Strength: 9.458

The authors reviewed 24 cases of familial or nonfamilial cherubism. The age at onset was between 6 and 10 years. It was characterized by bilateral painless swelling of jaws and eyes-to-heaven appearance was visible when the maxillae were affected as well. Radiographs showed well-defined multilocular radiolucencies and with age, thick sclerotic borders were visible. A malocclusive and abnormal dentition, worse in the mandible can be seen. Histopathologically, numerous randomly distributed multinucleated giant cells and vascular spaces within a fibrous connective tissue stroma with or without ... Read More »
» Published in Int J Oral Maxillofac Surg. 2005 Jun;34(4):350-6.

25. Craniofacial anomalies: from development to molecular pathogenesis.
Match Strength: 6.429

Advances in developmental biology combined with progress in human genetics are helping us decipher how the craniofacial region develops and how the consequences of misdirected development result in malformation. This review describes the molecular etiology of a number of craniofacial developmental anomalies. The more common craniofacial anomalies cleft lip and palate and craniosynostosis, as well as cleidocranial dysplasia, hemifacial microsomia, holoprosencephaly, enlarged parietal foramina, Treacher Collins syndrome and cherubism are discussed. Publication Types: ... Read More »
» Published in Curr Mol Med. 2005 Nov;5(7):699-722.

26. The 3BP2 adapter protein is required for optimal B Cell Activation and T-independent type 2 humoral response.
Match Strength: 5.514

3BP2 is a PH-, SH2-domain containing adapter protein mutated in the rare human bone disorder cherubism, which has also been implicated in immunoreceptor signaling. However, a function for this protein has yet to be established. Here we show that mice lacking 3BP2 exhibited a perturbation in the peritoneal B1 and splenic marginal zone (MZ) B cell compartments and diminished thymus-independent type II antigen response. 3BP2(-/-) B cells demonstrated a proliferation defect in response to antigen receptor cross-linking and a heightened sensitive to BCR-induced death via a caspase-3 dependent ... Read More »
» Published in Mol Cell Biol. 2007 Feb 5;

27. Giant cell lesions with a Noonan-like phenotype: a case report.
Match Strength: 5.287

AIM: The purpose of this article is to describe a case of multiple giant cell lesions of the mandible that occurred in a 14-year-old girl with phenotypic characteristics associated with Noonan Syndrome (NS). BACKGROUND: NS is a dysmorphic disorder characterized by hypertelorism, short stature, congenital heart defects, short and webbed neck, skeletal anomalies, and bleeding diathesis. REPORT: A 14-year-old girl with a previous diagnosis of NS (sporadic case) presented with multiple radiolucent lesions in the body and ramus of her mandible. SUMMARY: In terms of clinical behavior and the ... Read More »
» Published in J Contemp Dent Pract. 2007 May 1;8(4):67-73.

28. Peripheral Genotype-Phenotype Correlations in Asian Indians with Type 2 Diabetes Mellitus
Match Strength: 4.602

OBJECTIVE: A genome-wide scan of gene expression in leucocytes in Asian Indians with type 2 diabetes was performed and correlated with their known phenotype. METHODS: Microarray gene profiling of 13,474 sequence-verified, non-redundant human cDNAs was done to study leukocyte gene expression in Asian Indians with type 2 diabetes (DM: n=3) and matched controls (n=3). RESULTS: Significant differential expression (fold change <0.3 or >3) was noted for 897 genes in DM vs. controls. The 147 known genes in this category belonged to following broad functional groups (%): enzyme (32), nucleic acid ... Read More »
» Published in J Assoc Physicians India. 2005 Jun;53:521-6. Comment in: J Assoc Physicians India. 2005 Jun;53:507-9.

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