Diagnosis Of Cherubism Research Articles

QUALITY OF LIFE AND RESILIENCE IN EARLY SURGICAL TREATMENT OF CHERUBISM IN A PEDIATRIC PATIENT: CASE REPORT

This study reports the case of an eight-year-old child who presented facial asymmetry due to increased bilateral volume in the face. Computed tomography presented bilateral multilocular osteolytic solutions in the mandible and maxilla, with the expansion and thinning of the cortical bones. Laboratory tests released figures of calcium, alkaline phosphase, and emonium. An incisional biopsy was performed, and histopathological examination revealed features suggestive of a giant cell lesion. After correlating the history with the clinical, radiographic and histological findings, the diagnosis of cherubism was reached. The impact of facial treatment deformity on quality of life, evaluated through a well-recognized treatment (PedsQL), led to early treatment with curettage and bone surgery. After 6 months, the patient shows an improved facial symmetry and quality of life. This study reports the case of an eight-year-old child who presented facial asymmetry due to increased bilateral volume in the face. Computed tomography presented bilateral multilocular osteolytic solutions in the mandible and maxilla, with the expansion and thinning of the cortical bones. Laboratory tests released figures of calcium, alkaline phosphase, and emonium. An incisional biopsy was performed, and histopathological examination revealed features suggestive of a giant cell lesion. After correlating the history with the clinical, radiographic and histological findings, the diagnosis of cherubism was reached. The impact of facial treatment deformity on quality of life, evaluated through a well-recognized treatment (PedsQL), led to early treatment with curettage and bone surgery. After 6 months, the patient shows an improved facial symmetry and quality of life.

Cherubism: A Case Report Without Mutation in SH3BP2 Gene

Cherubism is a rare condition, usually hereditary, characterized by painless enlargements of the maxilla and mandible in the pediatric population. These enlargements are the result of bilateral, diffuse, multilocular osteolytic lesions that tend toward spontaneous remission. A 12-year-old male presented with a diagnosis of cherubism, lacking mutation in the SH3BP2 gene and with an unknown family history of cherubism. Extraoral examination showed bilateral expansion of the mandible. Panoramic radiography and computed tomography showed multilocular areas in the posterior mandible and maxilla. An incisional biopsy was performed in the mandible, and histological examination revealed connective tissue with newly formed capillary vessels and several multinucleated osteoclast-like giant cells, consistent with a diagnosis of cherubism. Because the disease is stable and is often self-limiting, no surgical intervention was performed and the patient was placed under periodic follow-up.

Chérubisme : à propos d’un cas suivi pendant 18 ans

Cherubism is a rare and benign bone disease affecting the bones of the face, mainly the mandible, sometimes the maxilla and exceptionally the whole skeleton. The physiopathology is briefly mentioned, especially the genetic aspect of the disease. Subsequently, we present the case of a patient suffering from cherubism, a case we have been following from the age of four and a half to the age of 22. Each step of the surgical treatment is illustrated through a wide iconography. The discussion analyses the intellectual process that leads to diagnosis. The clinical examination is fundamental, as well as the radiological check-up but the latter may not be feasible due to the young age of the patient. The definite diagnosis relies on the histological examination of the bone concerned. It will show an association of dense, abundant and highly vascularised conjunctive tissue together with giant plurinuclear cells, without any mitosis nor any cellular atypia. The other bone diseases affecting the bones of the face will have to be sought, of course, and eliminated through the clinical and radiological examinations and, above all, by the histological examination which is the basis of the definite diagnosis. The treatment of cherubism is still a controversial issue: some authors are in favour of therapeutic abstention while others support the recourse to surgery to deal with the functional and aesthetic dimensions of the disease. In conclusion, the authors insist that the diagnosis of cherubism is apparently easy. Cherubism must be envisaged in the case of a chubby-cheeked child and a sample of pathological bone should be taken in order to ascertain the diagnosis.

Querubismo, un caso clínico

ABSTRACT Cherubism, a case-report Cherubism is a benign osteofibrous disorder affecting facial bones. It is produced by an abnormalfunctioning of osteoblasts and osteoclasts, leading to replacement of normal bone by cellular fibroustissue and immature bone, producing painless progressive growing of the jaw, with round facial appearance. Case-report: An 11 years-old female patient is presented, with 8 years of progressive facial swelling. Theclinical and radiologic diagnosis of cherubism was confirmed by molecular analysis, detecting de novo mutation in SH3BP2 gene.( Key words: cherubism, mutation, genes, dominant).Rev Chil Pediatr 2009; 80 (1): 65-69 RESUMEN El Querubismo es una alteracion osteofibrosa benigna que los huesos de la cara originada por unfuncionamiento anormal de osteoblastos y osteoclastos que ocasiona reemplazo de tejido oseo por matrizfibrosa y hueso inmaduro que como consecuencia desarrolla un crecimiento progresivo no doloroso de lamandibula, dando un aspecto redondeado a la cara.

Cherubism: report of a nonfamilial case

A case of nonfamilial cherubism and a review of literature have been reported. A diagnosis of cherubism was based on clinical and histopathologic examinations.

The demonstration of perivascular collagen deposition in cherubism

Tumor tissue sections from eight children with cherubism were stained with several histochemical methods for collagen protein, noncollagenous protein, elastica, reticulum, carbohydrate, mucopolysaccharide, and amyloid content. The peculiar eosinophilic perivascular material noted around the capillaries was demonstrated by the van Gieson and Rinehart methods to be collagen protein. The presence of perivascular collagen is considered of diagnostic value in the diagnosis of cherubism. Follow-up evidence over the years has shown that patients earlier reported as having unilateral cherubism eventually develop bilateral jaw tumors. Until the genetic aberration that causes typical bilateral cherubism is better understood, the possibility of unilateral cherubism theoretically exists. Since perivascular collagen has not been evaluated in possible cases of unilateral cherubism, its diagnostic utility cannot be assessed for them. The improbability of cherubism falling into the realm of a “hypersensitivity or collagen disease” has been discussed. With our present limited knowledge, the genetic explanation of a dominant inheritance pattern with a variable penetrance seems to be the most logical etiology of cherubism.