Rare form of cherubism: Case report with review of literature

Abstract

Cherubism was first described by Jones in 1933 as “familial multilocular cystic disease of jaws.” Renamed as cherubism in 1938 because of classical characteristics of full round cheeks and upward cast of the eyes to the angelic look of the cherubs immortalized by renaissance art. It is characterized by progressive painless bilateral swelling of jaws involving either maxilla or mandible producing chubby face. It is uncommon fibro-osseous disorder of bone. Mutation in the gene encoding SH3-binding protein 2 (SH3BP2) plays a role in the disease. There are indications that the gene SH3BP2 plays a role in regulating the increased osteoblast and osteoclast activities that are seen in normal tooth eruption and point mutations in the gene could cause pathologic activation of osteoclasts. The purpose of this paper is to present the uncommon form of cherubism and to review the clinicoradiographic, histopathologic features and treatment so as to facilitate diagnosis of disease.

Cherubism With Bilateral Mandible and Maxilla Involvement

“… 2 , 3 Some studies have reported cherubism to be a family pathology; however, both hereditary and nonhereditary cases have been described. 4 , 5 In this patient, there was no history of the disease in any of the family members, and therefore, it was a nonfamilial case. In most patients, cherubism is because of dominant mutations in the SH3BP2 gene on chromosome 4p16.3.…”

“…Cherubism is characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible, maxilla, or both. 5 , 6 Jones described that patients appeared to be “looking towards heaven” like a cherub angel, because of the round appearance of the cheeks, resulting from jaw hypertrophy. Affected children usually present with painless progressive swelling of the cheeks, frequently associated with dental malformations.…”

“…Bilateral swelling of the jaws develops between 1 and 7 years of age. 1 – 5 It is commonly characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible. In the vast majority of reported cases, the lesions are limited to the mandibles, with the condyles being spared.…”

Cherubism: Report of a Case

“…Nonaggressive lesions are seen in teenagers while the aggressive form manifests in young children with rapid growth of the lesions. 1 Clinical features include painless, bilateral enlargement of the mandible and/or maxilla resulting in a rounded face along with a heavenward gaze. 5 The mandible is affected more than the maxilla.…”

“…It was renamed cherubism, as the patients look like cherubs portrayed throughout Renaissance art. 1,2 Though classified as a familial, autosomal dominant disease, sporadic cases have been reported in literature. 3 Cherubism usually manifests at around 2 years of age, grows rapidly until puberty, and regresses by around 30 years of age.…”