11/38. Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature.Many cases have been published on cherubism since Jones described it first time in three children of the same family [Am. J. Cancer 17 (1933) 946]. cherubism is an autosomal-dominant disorder in which the normal bone is replaced by cellular fibrous tissue and immature bone. Extracranial skeletal involvement is rarely seen in hereditary and non-hereditary forms of the disorder. The mandible is the most severely affected craniofacial component, in which uncontrolled growth of the malady deteriorates the aesthetic balance of the face. Bilateral swelling of the cheeks, mandibular enlargement and maxillary spongious hypertrophy cause orbital manifestations and tendency of eyes looking up to the sky. Thus, the pathognomic clinical feature resembles the appearance of "raised to heaven" Renaissance cherubs. The sporadic case concerns a child affected by cherubism. Radiographic and clinical data of the patient are presented and brief review of the literature is included.- - - - - - - - - - ranking = 1keywords = mandible (Clic here for more details about this article) |
12/38. A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism.OBJECTIVE: cherubism is a rare hereditary multilocular cystic disease of the jaws, characterized by its typical appearance. Although nonfamilial cases have been reported, it is difficult to distinguish nonfamilial cherubism from central giant cell granuloma. Recent studies have revealed the point mutations in the SH3BP2 gene on chromosome 4p16.3 in cherubism families. In this article, the SH3BP2 gene in nonfamilial cherubism was examined. PATIENT: A 21-year-old Japanese woman with nonfamilial cherubism. INTERVENTIONS: Genomic dna was purified from a blood sample obtained from the patient and used for direct sequencing. In addition, a sample of the lesion, resected during surgery, was used for histologic and immunohistochemical purposes. RESULTS: Genomic dna sequencing found a Pro418Arg mutation in the SH3BP2 gene of the patient. In a histochemical analysis, the multinucleated giant cells proved to be strongly positive for PGM-1, KP-1, and tartrate-resistant acid phosphatase and faintly positive for osteopontin. CONCLUSIONS: The missense mutation Pro418Arg was identified in the SH3BP2 gene from a nonfamilial case of cherubism. dna diagnosis may play a significant role in the identification of cherubism.- - - - - - - - - - ranking = 0.67839099499983keywords = jaw (Clic here for more details about this article) |
13/38. cherubism: review of four affected members in a Kuwaiti family.cherubism is a rare autosomal dominant fibro-osseous disorder of childhood, mostly limited to the maxilla and mandible. Extra-cranial skeletal involvement is rare. Post-pubertal involution of the process and jaw remodeling occurs in adulthood. The aim of this case report is to present four cherubs, a father and his three daughters, in whom the diagnosis was made based on history, physical examination, laboratory tests and typical radiological features. The imaging characteristics are discussed and the published literature is reviewed.- - - - - - - - - - ranking = 1.6783909949998keywords = mandible, jaw (Clic here for more details about this article) |
14/38. cherubism - new hypotheses on pathogenesis and therapeutic consequences.AIMS: The hereditary occurrence of cherubism indicates a probable genetic aetiology: a correlation with a mutation in the gene SH3BP2 has been demonstrated. A convincing concept of formal pathogenesis is not yet available. The study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study including genetic findings and an evaluation of the literature. RESULTS AND CONCLUSION: Because of its association with the development of the second and third molars, cherubism could be defined as a genetically determined alteration of tooth development. In this context, disturbed PTHrP - PTHrP receptor interaction induced by the mutation in SH3BP2 is discussed. The temporal and spatial determination of the clinical symptoms is explained by an interaction of SH3BP2-dependent signal transduction pathways with jaw morphogenesis (e.g. Hox-gene Msx-1). Because of the disease-induced lack of determination of the cap phase of the second and third molar, a spatial compartmentation, which is necessary for normal dental development, does not take place. This leads to dysregulation of mesenchymal bone building tissue areas, and to the development of giant cell granulomas with high osteoclastic activity. Because of the genetic determination of cherubism and the associated dedifferentiation of the diseased tissue, a surgical removal should be exclusively restricted to specific indications. Therefore an attitude of wait and see is preferred.- - - - - - - - - - ranking = 0.67839099499983keywords = jaw (Clic here for more details about this article) |
15/38. noonan syndrome with giant cell lesions.noonan syndrome is characterised by short stature, unusual facies, congenital heart disease, chest deformity and mild mental retardation. It may be sporadic or inherited as an autosomal dominant trait and occurs between one in 1000-2500. cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognised by age two to four years, follows a variable course, and is not known to be related to other genetic disorders. The purpose of this article is to report a case of multiple giant cell lesions of the mandible that occurred in a patient with phenotypic features of noonan syndrome. The emerging relationship between these cherubism-like findings and noonan syndrome will be discussed.- - - - - - - - - - ranking = 1.6783909949998keywords = mandible, jaw (Clic here for more details about this article) |
16/38. cherubism.cherubism is a rare inherited fibro-osseous disorder that affects the jaws, producing a characteristic facial appearance. patients are normal at birth; however, by their second or third year of life they develop a fullness of the lower one half of their face and retraction of the lower eyelids that exposes a rim of sclera below the iris. The facial appearance is similar to a Renaissance cherub with its gaze toward heaven. A case of cherubism in a 19-year-old male, complicated by severe orbital compression resulting in diplopia, is presented. The patient was diagnosed at three years of age when he developed the characteristic cherub facies and severe dental anomalies that required surgical correction. At age 14, he underwent facial contouring surgery of his jaws. Orbital compression later developed due to lesions growing in the floor of his orbits. This was corrected by way of a subciliary approach to the orbit. The patient's facial appearance and visual function were markedly improved by the surgery. A review of the literature detailing this rare disease is discussed.- - - - - - - - - - ranking = 1.3591065972961keywords = jaw, lower (Clic here for more details about this article) |
17/38. Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features.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 features observed in this case with those of the literature. Also discussed is the atypical and aggressive behaviour of this case during puberty.- - - - - - - - - - ranking = 1.0011623036482keywords = mandible, lower (Clic here for more details about this article) |
18/38. The aggressive form of cherubism: report of two cases in unrelated families.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.- - - - - - - - - - ranking = 1.6783909949998keywords = mandible, jaw (Clic here for more details about this article) |
19/38. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.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), an osteoclastogenic mediator, indicating that cherubism results from gain of function mutations in SH3BP2.- - - - - - - - - - ranking = 0.67839099499983keywords = jaw (Clic here for more details about this article) |
20/38. A prosthetic treatment approach for a cherubism patient: A clinical report.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.- - - - - - - - - - ranking = 1keywords = mandible (Clic here for more details about this article) |
| <- Previous || Next -> |