Cherubism: a case report of a three-generation inheritance and literature review

Abstract

Cherubism is a rare, non-neoplastic pathologic entity first described by Jones in 1933. It affects mostly younger individuals and is usually inherited. Cherubism presents as a painless jaw enlargement that affects both the maxilla and the mandible and is characterized by replacement of the osseous tissue by fibrous connective tissue. Radiologically, the lesions appear as multiple, multilocular radiolucent spaces with distinct borders divided by bony septations, which often dramatically alter the shape and size of the jaw structures. These often result in marked facial abnormalities. Cervical lymphadenopathy is not uncommon in those affected. The disease is self-limited and can reverse itself with time. Approximately 250 cases have been reported in published studies, mostly affecting males. The purpose of our report was to present a case of cherubism diagnosed in a young girl and the long-term (3 generations) follow-up evaluation of her mother and grandmother, both of whom had been diagnosed with the same pathologic entity.