FaCD Online Syndrome Fact Sheet

Last updated: 30 Mar 2010

Name: Cherubism

Synonym: Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease

Mode of Inheritance: AD

Genes

SH3BP2, mapped to 4p16.3

Tumor features (possible)

gingival fibroma
osteosarcoma

Non-tumor features

dental abnormalities
jaw cysts associated with multinucleated giant-cells
lower face swelling
rib cysts associated with multinucleated giant-cells

Comment

This benign self-limiting disorder is characterized by swelling of the lower face, associated with multiple cystic changes in the jaw and anterior end of ribs. Biopsies of these skeletal lesions show multinucleated giant cells. Onset is around 3d-4th year of life and progresses until the late teens.[1-3]. Some cases may behave very aggressively[4-6]. Mangion et al. reported the occurrence of an osteosarcoma in the irradiated jaw of one of their patients[7]. Clinically, cases may resemble Noonan-like/Multiple Giant Cell Lesion syndrome, also referred to in the past as Noonan syndrome-Cherubism association.
See also: Ramon syndrome.

References

[1] Peters WJN. Cherubism: a study of twenty cases from one family. Oral Surg Oral Med Oral Pathol 1979; 47(4):307-311.
[2] Hitomi G, Nishide N, Mitsui K. Cherubism: diagnostic imaging and review of the literature in Japan. Oral Surg Oral Med Oral Pathol 1996; 81(5):623-628.
[3] Friedman E, Eisenbud L. Surgical and pathological considerations in cherubism. Int J Oral Surg 1981; 10(Suppl 1):52-57.
[4] Ayoub AF, el Mofty SS. Cherubism: report of an aggressive case and review of the literature. J Oral Maxillofac Surg 1993; 51(6):702-705.
[5] Gomes MF, de Souza Setúbal Destro MF, de Freitas Banzi EC, dos Santos SH, Claro FA, de Oliveira Nogueira T. Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features. Dento maxillo facial radiology 2005; 34(5):313-8.
[6] Wang CN, Song YL, Peng B, Lu DH, Fan MW, Li J, Ye XQ, Fan HL, Bian Z. The aggressive form of cherubism: report of two cases in unrelated families. The British journal of oral & maxillofacial surgery 2006; 44(4):322-4.
[7] Mangion J, Rahman N, Edkins S, Barfoot R, Nguyen T, Sigurdsson A, Townend JV, Fitzpatrick DR, Flanagan AM, Stratton MR. The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet 1999; 65(1):151-157.