Cherubism treated with calcitonin: report of a case.

J Oral Maxillofac Surg

Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry (ACTA), University of Amsterdam, Amsterdam, The Netherlands.

Published: August 2007

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http://dx.doi.org/10.1016/j.joms.2006.06.266DOI Listing

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Article Synopsis
  • Cherubism is a rare bone disorder mostly affecting the lower jaw (mandible) and can sometimes affect the upper jaw (maxilla), starting in kids and usually getting better as they grow up.
  • It causes the bones to swell, which can lead to problems like crooked teeth, trouble speaking, and even affects how someone feels about their looks.
  • A 20-year-old patient had surgery to fix his appearance because of cherubism, and he felt much better afterwards with more treatments to help him even more.
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Cherubism is a rare hereditary dysplasia of the craniofacial skeleton with unpredictable course and controversial management. The authors report a case managed at the onset with limited mandibular resection and primary autogenous bone grafting, as well as staged secondary fat grafting for contour definition. Over 5 years, the patient demonstrated no recurrence of deformity except for mild hypoplasia, which was improved with fat grafting.

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Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and stunted growth. In 2018, Mehawej et al. described a patient with Ramon syndrome in whom a homozygous variant in ELMO2 was identified, suggesting that this gene may be the causative for this syndrome.

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Cherubism is a rare fibro-osseous condition characterized by bilateral expansion of the mandible and maxilla. Due to its rarity, treatment guidelines for cherubism have not been clearly established. Observation without surgical intervention is typically recommended, as cherubism often regresses spontaneously after puberty.

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The aim of our study was to review current concepts in targeted therapies for benign tumors of the jaw. Benign odontogenic and maxillofacial bone tumors often require radical surgery, with consequent morbidity that impacts patients' postsurgical quality of life. Currently, targeted therapies and novel nonsurgical therapeutics are being explored for management of non-resectable tumors, with the aim of avoiding surgery or minimizing surgical scope.

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