Clinicopathologic study of 24 cases of cherubism

doi:10.1016/j.ijom.2004.09.006

International Journal of Oral and Maxillofacial Surgery

Volume 34, Issue 4, June 2005, Pages 350-356

https://doi.org/10.1016/j.ijom.2004.09.006 Get rights and content

Abstract

The authors reviewed 24 cases of familial or nonfamilial cherubism. The age at onset was between 6 and 10 years. It was characterized by bilateral painless swelling of jaws and eyes-to-heaven appearance was visible when the maxillae were affected as well. Radiographs showed well-defined multilocular radiolucencies and with age, thick sclerotic borders were visible. A malocclusive and abnormal dentition, worse in the mandible can be seen. Histopathologically, numerous randomly distributed multinucleated giant cells and vascular spaces within a fibrous connective tissue stroma with or without eosinophilic collagen perivascular cuffing were apparent. Multinucleated giant cells were positive for osteoclastic specific markers, tartrate-resistant acid phosphatase and human αV β3 integrin, 23C6. Results after follow-up were available for 14 cases. Of these, no treatment was carried out in five cases, cherubism resolved (three cases) or grew slowly (two cases); curettage or surgical contouring was performed in seven cases, during the rapid growth of the lesions. This not only gave good immediate results, but also arrested active growth of remnant cherubic lesions and even stimulated bone regeneration. Segmental mandibulectomy followed by reconstruction was performed in two cases with extensive lesion and the risk of pathologic fracture of the mandible, and excellent results were obtained.

Section snippets

Materials and methods

The patients consisted of 24 patients (17 were referred to our hospital, the remaining 7 were from other hospitals in China31, 34, 35). Of those, 19 fulfilled the following objective criteria of cherubism: (1) clinically, a painless swelling of the jaw, combined with (2) radiographic findings of multilocular (rarely unilocular) radiolucencies, often very extensive, with a few irregular bony septa, and (3) pathologic bone cavities filled in by tissue, similar to the gross and microscopic

Clinical findings

Age at onset of cherubism in the 24 patients is given in Table 1. Of those, 14 patients unveiled a positive family history of cherubism (Fig. 1). The penetrance is 66.7% (14/21) in males compared to 48% (12/25) in females. The symptoms and signs are painless swellings of the jaw in most patients (n = 20). Plump face was apparent in 19 patients (Fig. 2), and the sclera below the pupils became exposed in only three severe cases, giving the classic ‘eye-to-heaven’ appearance. Two patients were only

Discussion

Cherubism is a rare benign bone disease with autosomal dominant inheritance. It appears to have 100% penetrance in males but only 50–70% penetrance in females¹⁷. However the penetrance is lower in this series (male, 66.7%; female, 48%) and 10 of the present patients are nonfamilial as has been reported in the literature7, 8. Are these true sporadic cases of cherubism or only apparently sporadic due to some de novo genetic mutations, incomplete penetrance, or an inadequate family history? This

Acknowledgments

This work was supported by the “National Nature Science Foundation” of China (No. 30271412). The authors would like to acknowledge Yun-tang Wu for his generous help in evaluation of radiographs.

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Clinical PaperCongenital Craniofacial AnomaliesClinicopathologic study of 24 cases of cherubism

Abstract

Section snippets

Materials and methods

Clinical findings

Discussion

Acknowledgments

J Oral Maxillofac Surg

J Oral Maxillofac Surg

Oral Surg Oral Med Oral Pathol

Br J Oral Maxillofac Surg

Oral Surg Oral Med Oral Pathol

J Oral Maxillofac Surg

Dent Clin North Am

Oral Surg Oral Med Oral Pathol

J Oral Maxillofac Surg

Oral Surg

Oral Surg Oral Med Oral Pathol

J Oral Maxillofac Surg

Br J Oral Maxillofac Surg

Oral Surg Oral Med Oral Pathol

Br J Oral Maxillofac Surg

J Oral Maxillofac Surg

Int J Oral Surg

Clinical Paper
Congenital Craniofacial Anomalies
Clinicopathologic study of 24 cases of cherubism