A 10-year-old girl presented with bilateral jaw swelling noticed by her parents when she was 3 years old. Her father had a similar history with his jaw swelling spontaneously regressing by the 25 birthday. Examination revealed fullness of cheeks and jaws with upward tilting of eyes exposing the sclera below inferior limbus, giving, the so-called ‘cherubic’ appearance (Fig. 1a). Radiograph revealed multiple thin-walled cystic lesions involving rami and body of mandible (Fig. 1b), reconfirmed on computed tomography images (Fig. 1c). Biochemical investigations revealed mildly elevated total alkaline phosphatase. She was diagnosed as familial cherubism and reassured about the self-limiting disease course.

Fig. 1 Cherubism characterized by (a) Bilateral fullness of the cheeks and jaws with slight upward tilting of the eyes, giving a ‘cherubic’ appearance; (b) Radiograph of the face showing multiple thin-walled cystic lesions involving rami and body of mandible; (c) Computed tomography of the face with 3D reconstructed images showing multiple expansile soft-tissue lesions involving both halves of the mandible causing areas of thinning and destruction of the overlying bony cortex.

Cherubism is a fibro-osseous disorder characterized by the appearance of multilocular, expansile radiolucent lesions involving mandible or maxilla that usually appear at 2-7 years of age. Gain-of-function mutations in SH3BP2 gene have been implicated. Differential diagnoses include brown tumor of hyperparathyroidism, Noonan/multiple giant cell lesion syndrome, fibrous dysplasia (as part of McCune-Albright syndrome), and ossifying fibromas seen in hyperparathyroidism-jaw tumor syndrome. Cherubism is self-limiting and begins to regress spontaneously around the age of puberty.