Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report

Abstract

Cherubism is an inherited, autosomal dominant disorder that characteristically affects the jaws of children. The disease typically manifest as a bilateral swelling with associated submandibular lymph node enlargements and usually regresses as age advances. The disease is microscopically indistinguishable from other giant cell lesions and is essentially a clinical diagnosis. The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis is referred as Ramon syndrome. We report a case of Ramon syndrome in an 8 year old girl.

Fig. 1

a Shows clinical appearance of the bilateral swelling. b and c, shows gingival hypertrophy without defined interdental papilla

Fig. 2

Shows bilateral involvement of the mandible including neck of the condyle (arrow) and hypoplasia of the head of the condyle. Multilocularity is also evident in the maxilla (arrows)

Fig. 3

Shows bicortical expansion in the posterior region and interdental bone above the cementoenamel junction in the anterior region

Fig. 4

Axial view of the CT scan shows multilocular lesion with hypodense and hyperdense regions

Fig. 5

Shows mononuclear and multinuclear cellular proliferation in a vaguely storiform pattern (H and E, ×100)

Fig. 6

Shows immature bone formation among the lesional tissue (H and E,  ×100)