Familial Cherubism Research Articles

Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease

Cherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Here we present two cases of familial cherubism, uncle and nephew, with variable clinical involvement (“Expressivity”), and one case of a woman (sister and mother, respectively), who transmitted cherubism without suffering the disease. In this article we have shown that, in familial cherubism cases, the mutation is inherited through an autosomal dominant transmission. Mutations affecting gene SH3BP2 cause variable clinical involvement (variable expressivity), involvement can be moderate, severe or may result merely in asymptomatic carriers. Since the possibility of transmission reaches 50% of chances, we believe that it is important to develop genetic counseling for both patients and carriers, in order to prevent or minimize new affected offspring.

Cherubism—a case report with review

Cherubism is a benign hereditary condition of the jaws, usually found in children by 5 years of age. Cherubism is a familial disease and presents an autosomal dominant trait with 100% penetrance in males and 50-70% penetrance in females. We present a case report of familial cherubism in a 20-year-old male patient.

Diagnosis and Treatment of Familial Cherubism Characterized by Early Onset and Rapid Development

Cherubism is a benign maxillary bone dysplasia of childhood, usually showing an autosomically dominant inheritance with variable penetrance and spontaneously resolving after puberty. Only maxillary bones are affected and develop pseudocystic osteolytic lesions. This article presents an early and rapidly evolving familial case of cherubism. The 3-year-old child underwent conservative curettage of lesions, with a conservative approach that allowed a normal permanent dentition in adolescence. Family history revealed that the father had been treated for similar lesions between 14 and 21 years of age, but the late treatment caused edentulism. In conclusion, although cherubism represents a benign and localized maxillary dysplasia, it requires prompt surgical but conservative treatment and careful follow-up to avoid permanent lesions, that is, malocclusion and/or edentulism.

Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery

The Central Institute for Stomatology and Maxillo-facial Surgery in Moscow is one the main centers for the treatment of pediatric head and neck tumors in the territory of the former Soviet Union. A series of 33 patients presenting with cherubism (24 children and 9 of their parents) is presented. The authors discuss the atypical clinical presentations, the relevant associated anomalies and the different treatment strategies. They report the first case of cherubism associated with gingival hypertrophy without neurological signs.

Clinicopathologic analysis and genetic investigation of two families with cherubism

To study genetic feature, clinical and histopathological characteristic of two Chinese kindreds with cherubism (CBM). Two Chinese kindreds with CBM were investigated. The affected individuals of two families were analyzed with medical history, clinical manifestations, classified grading system, radiographic assessment, histopathological findings, and hereditary nature. There were 2 individuals affected with CBM in family A and 3 patients involving three generations in family B. Two probands were diagnosed aggressive form cherubism and classified as grade IV. In histopathological findings, besides varying numbers of multinucleated giant cells in a stroma of fibroblasts and the eosinophilic cuffing surrounding some vessels, actively proliferating areas with clear mitoschisis and relative dormant areas with loose fibrous tissue and bone were also presented in microscopic fields of the lesion. Cherubism is caused by autosomal dominant inheritance. The diagnosis should be based on the genetic, clinical, radiological, and pathological aspects of the disease.

Clinicopathologic study of a family cherubism

To investigate the clinicopathologic features of familial cherubism and its differentiation from other giant cell lesions in jaws and the results of surgical treatments with a long-term follow-up. Four cases of familial cherubism were reviewed and their clinical and radiographic features, histopathologic appearance, biochemical markers and surgical treatments analysed. Clinically, cherubism was characterized by bilateral painless swelling of jaws, mandibular deformity was common. Radiographs showed multilocular radiolucencies with sclerotic thickening border. Histopathologically, numerous randomly distributed multinucleated giant cells and vascular spaces within a fibrous connective tissue stroma with or without eosinophilic collagen perivascular cuffing were shown. The lesion regressed without treatment in 1 cases. Curettage was performed in 3 cases with good results. Cherubism can be diagnosed according to its typical clinical and radiographical features with a positive family history. It might regress without treatment. But surgery intervention is suggested to improve physiological function and to solve the psychologic problem of the patients.