Treatment of Cherubism with Salmon Calcitonin: A Case Report

Assistant Professor, Erciyes University, Faculty of Dentistry, Department of Oral and Maxillofacial Surgery, Kayseri, Turkey.
European journal of dentistry 08/2011; 5(4):486-91.
Source: PubMed


Cherubism is a familial disease of the jaws which is inherited via autosomal dominant manner. Typical features of cherubism include a painless bilateral, symmetrical enlargement of the jaws, misalignment of teeth, and intra-osseous central giant cell granuloma-like lesions, which are usually evident in early childhood. Treatment of cherubism consists of local curettage of the lesions, jaw contouring, intralesional steroid injections, and systemic calcitonin administration as well. Calcitonin therapy for central giant cell granuloma of the jaws is well documented, and favorable results have been achieved. However, fewer reports have been presented in regard to calcitonin administration for cherubism. In the present report, a 14-year-old boy with cherubism who had intra-osseous cherubic lesions in his mandible was treated with an administration of 200 IU systemic calcitonin every other day via his nasal passage for duration of more than two years. After 30 months of calcitonin therapy, the lesions in the mandible were significantly regressed, and calcitonin application was ceased. Despite some drawbacks, such as unpredictable efficient absorption and patient tolerability, nasal administration is the easiest way to use calcitonin therapy on children. In this report, every-other-day applications of calcitonin increased patient tolerability and might be considered as an effective treatment for mild cherubic lesions.

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    • "These radiolucent lesions are asymptomatic but may affect the development or eruption of the permanent molars. The more progressive form of cherubism manifests with multiple symmetrical lesions in the mandible or involves the mandible and maxilla with singular or multiple lesions (21). By 30 years of age, lesions are frequently not detectable. "
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    ABSTRACT: Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histopathological laboratory tests and a review of the literature. Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A panoramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents were clinically normal. Peripheral blood was collected from all participants and genomic DNA sequencing was carried out. Results: A missense mutation was found in the two affected siblings and their asymptomatic mother. The mutation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9. Conclusions: 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. Genotype-phenotype association studies in individuals with cherubism are necessary to provide important insights into the molecular mechanisms associated with this disease. Key words:Cherubism, mandible, maxilla, SH3BP2, gene analysis, CBCT.
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    ABSTRACT: Bilateral multilocular radiolucencies of the mandible are the main feature of cherubism (OMIM #118400), a rare autosomal dominant disorder primarily affecting the jaw. Typically, symmetrical swelling of the lower face is evident from around three years of age and increases until puberty. The underlying radiolucent lesions consist of vascular fibrotic stroma with scattered multinuclear giant cells. By age 30 years the facial contours are often unremarkable. Missing and displaced teeth as well as premature tooth loss are characteristic. Diagnosis rests upon a combination of clinical, radiographic, histological and molecular findings. SH3BP2 is currently the only gene known to be associated with cherubism. This cross-sectional study describes oral manifestations, quality of life and results of mutation analysis of SH3BP2 in 11 females and 13 males ages five to 84 years with cherubism. One individual with molecularly confirmed Noonan syndrome was excluded from the cohort. Standard statistical tools were used to analyze quality of life data. Mutation analysis was positive in all 22 familial and negative in both sporadic cases. Disease manifestations in mutation carriers varied from none to severe. Although intra-familial variability was marked, we found no evidence of non-penetrance, and females were on average more severely affected than males. Dental sequelae were pronounced; adults lacked a mean of 13 teeth (range 2-28), 13 of 17 aged 16 years and older had removable or fixed dentures and five had dental implants; implant survival rate was 79%. In spite of pronounced disease manifestations and dental sequelae, adult quality of life was good.
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  • Article: Cherubism
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    ABSTRACT: Cherubism is one of the very few genetically determined disorders that affect only jaw bones. A typical form of cherubism in an 11 years old girl with features of bilateral swelling of the cheeks and soap bubble radiographic appearance on the maxilla and the mandible was presented. Multiple members of the first and second degree relatives were also affected. The clinical presentation of the case, differential diagnosis and treatment modalities were discussed.
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