CHERUBISM

Cherubism is a rare disease of children that is characterized by bilateral painless mandibular (and often corresponding maxillary) swellings that cause fullness of the cheeks, firm protuberant intraoral alveolar masses, and missing or displaced teeth (Figure 7-16).Submaxillary lymphadenopathy is an early and fairly constant feature that tends to subside after the age of 5 years and that usually has regressed by the age of 12 years.

Maxillary involvement can often produce a slightly upward turning of the child’s eyes, revealing an abnormal amount of sclera beneath them. It was the upward “looking toward heaven” cast of the eyes, combined with the characteristic facial chubbiness of these children, that prompted the term “cherubism.”Cherubism is inherited as a dominant gene, with a penetrance of nearly 100% in males and 50 to 75% in females; however, the exact cause of cherubism remains unknown, and other patterns of inheritance as well as the occurrence of cherubism in association with other syndromes have been described.The clinical appearance may vary from barely discernible posterior swellings of a single jaw to a grotesque anterior and posterior expansion of both jaws, with concomitant difficulties in mastication, speech, swallowing, and respiration. Disease activity declines with advancing age.
Radiographically, the lesions are multiple well-defined multilocular radiolucencies in the mandible and maxilla. These rarefactions begin in the posterior alveolar region and ramus and can spread anteriorly. They are irregular in size and usually cause marked destruction of the alveolar bone. Numerous displaced and unerupted teeth appear to be floating in radiolucent spaces. Serum calcium and phosphorus are within normal limits, but the serum alkaline phosphatase level may be elevated.
Histologically, the jaw lesion can bear a close resemblance to benign giant cell granuloma. Other specimens have been described as being more mature, with a greater amount of fibrous tissue and collagen and fewer giant cells. The prominent eosinophilic perivascular cuffing material noted around capillaries in these lesions has been proved to be collagen; this finding is a distinctive histologic diagnostic feature (Figure 7-17).
The reported treatment of cherubism has varied considerably, and there are advocates for each of the following methods: no active treatment, extraction of teeth in the involved areas, surgical contouring of expanded lesions, and complete curettage. Long-term longitudinal clinical studies have disclosed that the childhood lesions give way to partial or complete resolution in the adult.