Cherubism: report of three cases and literature review

To report 3 cases of cherubism, one of whom underwent surgery for orbital manifestations, and to provide a literature review.

Our patients were normal at birth and developed painless enlarging of the cheeks and jaws when they were 4-5 years old. Ophthalmologic examinations showed mild proptosis, superior globe displacement and inferior scleral show in all cases. Cases 2 and 3 had lower lid skin discoloration. Computed tomography (CT) scans demonstrated bilateral multicystic lesions in the maxilla and mandible with cortical thinning in all cases. In Case 3, left eye hyperglobus and anisometropic amblyopia was seen. In this case, the CT scan showed a round, well-defined and homogeneous mass, involving the anterior and superior walls of the maxillary sinus on the left side, extending into inferior orbit. Debulking of the mass was performed at the surgery. The pathologic findings were compatible with the diagnosis of giant cell reparative granuloma. He returned 1 year after surgery with recurrence of the mass.

A few cases were reported in the literature with histopathologically proven orbital cherubism. To our knowledge, lower lid skin discoloration in Cases 2 and 3 and anisometropic amblyopia in case 3 were not described elsewhere in cherubism cases. We recommend that all cases with cherubism must be examined by an ophthalmologist to diagnose and treat possible orbital manifestations.