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

ABSTRACT 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.

  • Source
    [Show abstract] [Hide abstract]
    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.
    Medicina oral, patologia oral y cirugia bucal 03/2014; 19(4). DOI:10.4317/medoral.19496 · 1.10 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Cherubism (OMIM#118400) is a genetic disorder in children characterized by excessive jawbone destruction with proliferation of fibro-osseous lesions containing a large number of osteoclasts. Mutations in the SH3-domain binding protein 2 (SH3BP2) are responsible for cherubism. Analysis of the knock-in (KI) mouse model of cherubism showed that homozygous cherubism mice (Sh3bp2KI/KI) spontaneously develop systemic autoinflammation and inflammatory bone loss and that cherubism is a TNF-α-dependent hematopoietic disorder. In this study, we investigated whether bone marrow transplantation (BMT) is effective for the treatment of inflammation and bone loss in Sh3bp2KI/KI mice. Bone marrow (BM) cells from wild-type (Sh3bp2+/+) mice were transplanted to 6-week-old Sh3bp2KI/KI mice with developing inflammation and to 10-week-old Sh3bp2KI/KI mice with established inflammation. Six-week-old Sh3bp2KI/KI mice transplanted with Sh3bp2+/+ BM cells exhibited improved body weight loss, facial swelling, and survival rate. Inflammatory lesions in the liver and lung as well as bone loss in calvaria and mandibula were ameliorated at 10 weeks after BMT compared to Sh3bp2KI/KI mice transplanted with Sh3bp2KI/KI BM cells. Elevation of serum TNF-α levels was not detected after BMT. BMT was effective for up to 20 weeks in 6-week-old Sh3bp2KI/KI mice transplanted with Sh3bp2+/+ BM cells. BMT also ameliorated the inflammation and bone loss in 10-week-old Sh3bp2KI/KI mice. Thus our study demonstrates that BMT improves the inflammation and bone loss in cherubism mice. BMT may be effective for the treatment of cherubism patients.
    Bone 10/2014; 71. DOI:10.1016/j.bone.2014.10.021 · 4.46 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Cherubism is a rare hereditary disease that frequently manifests as a painless enlargement of the mandible and/or maxilla. The disease usually progresses rapidly during the first and second decades of life but it is self-limiting and often regresses. Although few orthodontic case reports describing cherubic patients exist, the timing and extent of surgical intervention is controversial. This present paper aims to review the treatment literature and provide a case report of a patient who underwent orthodontic/surgical management. The patient presented with severe cherubism in her late teenage years; her main complaint was poor facial and dental appearance. Multiple teeth were missing and those present demonstrated significant preoperative root resorption. Treatment consisted of orthodontic alignment of the upper anterior teeth and a recontouring osteotomy. Confirmed by the patient, the combination approach led to a significant improvement in facial aesthetics and better self-esteem. Tooth movement through the osseous lesions was uneventful and no further root resoption was observed. Orthodontic treatment may be undertaken in those affected by Cherubism even with pre-existing idiopathic root resorption, but patients need to be appropriately informed and consented.
    Australian orthodontic journal 11/2014; 30(2):214-20. · 0.27 Impact Factor

Preview (3 Sources)

Available from