Cherubism is a rare genetic disorder of the jaw characterized by bilateral, symmetrical enlargement of the mandible and/or maxilla resulting from rapid bone degradation followed by extensive bone remodeling with multilocular benign cysts. As a consequence, the skin is stretched over the classically swollen cheeks, pulling the lower eyelids down and exposing a line of sclera so that the eyes appear to be “raised heavenward.” This facial appearance of the upwardly turning eyes and swollen cheeks has been described as resembling the faces of cherubs found in Renaissance art. The variable cherubism phenotype can range from absence of any clinical features to severe mandibular and maxillary overgrowth causing respiratory, vision, speech, and swallowing concerns. Typical age of onset is 2 to 5 years, with the jaw lesions progressing gradually until puberty when the swelling spontaneously stabilizes and then regresses. Residual radiographic changes can last into the fourth decade. Associated dental abnormalities may include congenitally missing teeth, premature loss of the deciduous teeth, and displacement of the permanent teeth by jaw lesions. While the disease is usually restricted to the jaw, rare cases of radiological abnormalities of the ribs have been reported.
The differential diagnosis for Cherubism includes Noonan-like/Multiple giant-cell lesion syndrome, Central giant-cell granuloma, Fibrous dysplasia of the jaw, and Hyperparathyroidism. Mutations in the PTPN11 gene have been described in association with both familial and isolated Noonan-like/Multiple giant-cell lesion syndrome. Cherubism can be distinguished from the other conditions on the basis of clinical, radiologic, and biochemical evaluation. Finally, Cherubism has been reported as one of the clinical features of Ramon syndrome (characterized by short stature, mental retardation, and gingival fibromatosis), and also can be associated with Neurofibromatosis Type 1.