Case report
Cherubism and its charlatans

https://doi.org/10.1054/bjps.2001.3701Get rights and content

Summary

Cherubism is a rare hereditary condition characterised by progressive cystic proliferation of the mandible and maxilla in childhood, followed by post-pubertal involution of the process and jaw remodelling in adulthood. Its name is derived from the cherubic appearance that results from the jaw hypertrophy. Here, we present the case of a young boy with cherubism, in the context of his pedigree, to illustrate the clinical characteristics and their variable expression. We also seek to distinguish cherubism from central giant cell granuloma and giant cell tumour of the jaws, with which it holds a false synonymity.

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    Stabilization of the clinical manifestations is then followed by regression before the 4th - 5th decade of life and facial abnormalities are no longer apparent [9,11]. The clinical manifestations of cherubism may vary from non-discernible clinical and radiographical features to massively increased oro-facial enlargement - with respective complications in the respiratory, optical and acoustic systems [8,12]. Typical clinical findings include bilateral jaw swelling, typically characterized by absence of pain and a symmetrical growth pattern.

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    However, clinical manifestations depend on severity and can range from no clinically detectable features to significant disfigurement with local sequelae, as in the case presented. Radiographically, the bilateral multilocular radiolucencies of cherubism may resemble other giant cell–containing lesions.7 Typically appearing in childhood, these multilocular lesions tend to expand and increase in number until puberty, after which they subsequently begin to regress, fill with bone and remodel until around age 30, when they are frequently not detectable.3

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    Therefore, her facial disfigurement was still under conservative management. Severe jaw malformation that has an impact on physical function and psychological development in childhood and adolescence can be an indication for ablative surgery [7,14,15]. Surgical contouring by ablation during growth of the lesion has been reported not to provoke active regrowth of the lesion and to yield good results [4,11].

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