Cherubism: Multilocular Jaw Expansion in Childhood

Cherubism is a rare, hereditary bone disorder of childhood that causes progressive, painless swelling of the jaws. Because the full cheeks and upturned eyes of severely affected children resemble the cherubs depicted in Renaissance paintings, the condition received its distinctive name. Although ...

Cherubism is a rare, hereditary bone disorder of childhood that causes progressive, painless swelling of the jaws. Because the full cheeks and upturned eyes of severely affected children resemble the cherubs depicted in Renaissance paintings, the condition received its distinctive name. Although alarming in appearance, cherubism is generally self-limiting and follows a characteristic pattern of growth, stabilization, and spontaneous regression. This article reviews the genetic basis of the disease, its clinical and radiographic features, and the principles that guide observation and surgical management.

Genetic Basis and Pathogenesis

Cherubism is most often inherited in an autosomal dominant pattern with high penetrance, although sporadic cases also occur. In the majority of families, the condition is caused by mutations in the SH3BP2 gene, which encodes a protein involved in intracellular signaling in bone cells. The mutated protein leads to overactivity of osteoclasts and an imbalance between bone resorption and formation, resulting in the replacement of normal jaw bone by fibrous tissue containing numerous multinucleated giant cells.

The disease is not present at birth. It typically becomes apparent between two and five years of age, when the first signs of jaw enlargement appear. The mandible is affected more often and more severely than the maxilla, and involvement is almost always bilateral, which helps to distinguish cherubism from other giant cell lesions of the jaws. Because the process is driven by active remodeling, affected bone undergoes continuous expansion during the growth period of the child.

Clinical Course and Features

The hallmark of cherubism is a bilateral, symmetrical, painless enlargement of the jaws. Early in the disease, the swelling may be barely noticeable, but it can progress to produce significant facial deformity. Intraorally, the expansion may cause displacement of developing teeth, premature loss of primary teeth, and malocclusion. In severe cases, the enlarged maxilla can push the eyes upward, producing the characteristic upturned gaze that inspired the name of the condition.

Importantly, cherubism is typically painless, and the overlying mucosa remains normal. The lymph nodes of the neck may be enlarged in the early proliferative phase. The natural history is one of progression during childhood, followed by stabilization at puberty, and in many patients a gradual regression of the lesions begins in the third decade of life. As a result, many adults who had cherubism in childhood show little or no residual deformity.

Radiographic Findings

Radiographs reveal bilateral, multilocular radiolucent lesions that expand the jaw and thin the overlying cortical bone. The lesions characteristically involve the posterior mandible and may extend into the ascending ramus, sometimes sparing the condyle. In the maxilla, the lesions often surround the developing teeth and may displace the floor of the orbit. Resorption of tooth roots is uncommon, which helps to distinguish cherubism from more aggressive lesions.

Computed tomography demonstrates the extent of bone expansion, cortical thinning, and any involvement of the paranasal sinuses or orbital floor. On magnetic resonance imaging, the lesions typically show low signal intensity on T1-weighted images and variable signal on T2-weighted images, reflecting their fibrous content. Histologically, the biopsy specimen contains fibrous connective tissue with numerous multinucleated giant cells, a pattern shared with other giant cell lesions; the diagnosis therefore rests on the combination of clinical, genetic, and radiographic features.

Management Principles

Because cherubism is self-limiting, conservative management is the cornerstone of care. In mild cases, periodic observation with clinical and radiographic monitoring is appropriate, particularly during the early phase when the disease is still progressing. Regular dental follow-up is essential to manage tooth displacement, prevent caries, and support normal eruption and occlusion.

Surgical intervention is reserved for specific indications: severe functional problems such as compromised breathing, vision, or speech; marked aesthetic deformity that interferes with the child's quality of life; and failure of the lesions to regress after puberty. Curettage during the active phase may be followed by recurrence, whereas surgery performed after stabilization is associated with better outcomes. Orthodontic treatment may be needed to correct residual malocclusion after the lesions have resolved.

Differential Diagnosis and Complications

Several conditions can produce bilateral jaw swelling in childhood, and distinguishing them from cherubism is essential. Central giant cell granuloma is usually solitary and more aggressive, while fibrous dysplasia typically presents as unilateral, slowly expanding bone with a ground-glass radiographic appearance. Other giant cell lesions, such as those seen in hyperparathyroidism, are associated with biochemical abnormalities and should prompt measurement of calcium and parathyroid hormone levels. Although cherubism is generally benign, complications can arise in severe cases, including displacement of the developing tooth germs, malocclusion, speech difficulties, and occasionally compromise of the airway in extreme maxillary involvement. Visual disturbances from upward displacement of the orbits are rare but possible. These potential complications underline the importance of regular monitoring by a team familiar with the natural history of the disease, so that intervention can be timed appropriately.

Clinical Key Points

- Cherubism presents as bilateral, painless jaw swelling in early childhood and should be considered in any child with symmetrical enlargement of the jaws.

- An autosomal dominant family history and SH3BP2 mutations support the diagnosis, but sporadic cases occur.

- The condition typically stabilizes at puberty and may regress spontaneously in adulthood, so overtreatment should be avoided.

- Root resorption is uncommon, helping to differentiate cherubism from more aggressive giant cell lesions.

- Management is largely conservative, with surgery reserved for functional impairment, severe deformity, or persistent lesions.

- Multidisciplinary care involving the dentist, oral and maxillofacial surgeon, and clinical geneticist is recommended.

Conclusion

Cherubism is a dramatic but largely self-limiting condition that follows a predictable clinical course. Awareness of its characteristic bilateral jaw swelling, typical imaging findings, and benign natural history allows clinicians to reassure affected families and avoid unnecessary aggressive treatment. With careful monitoring, preventive dental care, and selective surgical intervention, most children with cherubism achieve a favorable long-term outcome as the lesions regress with age.