Cherubism is a rare familial multilocular cystic disease of the jaws. Cherubism mostly has an autosomal dominant inheritance. This disease mainly occurs in children, has a tendency toward spontaneous remisson after puberty. Clinically, it shows bilateral bone enlargement of the jaws and multilocular cystic lesion on radiograph. Histologically, the lesion shows fibrovascular stroma and osteoblast like multinucleated giant cell. These features are similar to other bone disease such as central giant cell granuloma. So it needs differential diagnosis by clinical, radiological and histophathologic examinations. We report with review of literatures the fifteen years old male patient who had diagnosed as cherubism by clinicoradiological and histopathologic examination results.

Cherubi sm is a ra re autosoma l dominant inherited condi tion caused by mutations in the c-Abl-binding protein SH3BP2. 1t is characteri zecl by mul t iple cystic giant cell lesions of the jaw appearing in early childhood with stabi li zation and rcmi ssion after pubcr ty, In thc present study, genomic DNA was purified f rom a blood sample obtained from the patient a ncl pa rents a ncl used f'or di rect sequence analysis of the SH3BP2 gene, 1n addit ion, a sample of the lesion was used f0 1" hi stologic ancl immunoh is toche mical purposes, Histology revealed a proliferation of spindle s haped fibroblas t ic cells and irregu la ry dis persed multinucleated giant cell s , The multinucleated giant cells proved posit ive for CD68 and TRAP, Ge nomic DNA sequencing f'ou ncl a missense mutation Pro418Arg in exon 9 of the SH3BP2 gene of the patient and the mother, Theref'ore, the mul t inucleated giant cells are basically osteoclastic in nature, Additionally, as the PI'o418Arg mutation had been repol' ted as caus ing cherubism, it represents a mutational hotspot,