Fig. 1

Classic features of severe cherubism. a and b Clinical and radiological cherubism features. Coronal preoperative CT scan (a) showing multilocular tissue expansion developing into the maxilla and the mandible, with osteolysis and cortical bone expansion (arrows), tooth displacements (arrow heads), and elevation of the orbital floors (*). Intraoral examination (b), showing symmetrical enlargement of the maxilla and mandible causing proptosis and glossoptosis due to expansion through the floor of the mouth (dotted arrow). c Electropherogram showing the recurrent pathogenic mutation c.1244 p.(Arg415Gln) in the SH3BP2 gene. Identification of this previously described point mutation confirmed the cherubism diagnosis. d-i Histological cherubism features. d Cell-rich areas are composed of oval to spindle-shaped fibroblasts and numerous osteoclast-like giant multinucleated cells . Numerous vessels are noted, sometimes surrounded by perivascular hyalinosis (HE Staining, scale bar 200 μm). e CD68 positive cells revealed by immunochemistry. Most of the giant multinucleated cells are CD68 positive. f and g TRAP staining. The giant multinucleated cells are TRAP positive. f Low magnification, scale bar 100 μm. g High magnification, scale bar 50 μm (counterstaining with methyl green). h and i Immunohistochemistry with anti-NFATc1 antibody. A nuclear staining is observed in most of the giant multinucleated cells. h low magnification, scale bar 100 μm. i high magnification, scale bar 50 μm (counterstaining with methyl green)