Last revised by Joshua Yap on 2 Dec 2022

Cherubism has historically been considered a variant of fibrous dysplasia, but is likely a distinct entity. 

Cherubism is a rare disorder and the precise incidence is unknown. It is inherited in an autosomal dominant pattern 2 and has variable penetrance, with onset in early childhood (typically 3-4 years of age). Interestingly, penetrance is dependent on gender: 100% in males, 50-70% in females. 

Clinical presentation is due to characteristic cosmetic changes in the face, consisting of:

  • bilateral, usually symmetric, jaw fullness with a slight upward turning of eyes

  • bilateral expansile multiloculated cystic masses with symmetric involvement of mandible and maxilla

Additionally, submandibular lymph node enlargement may also be present 2. The teeth in the affected regions may be loose, and tooth eruption delayed 2,3.

Although the precise mechanism is unclear, an underlying SH3BP2 gene mutation is present in approximately 80% of cases 4.

Histological features are indistinguishable from a giant cell granuloma 3.

Radiographic features consist of lucent expanded regions within the maxilla and mandible, with soap-bubble appearances. As the lesion ages, it often becomes sclerotic and may reduce in size 2,3.

Despite the pronounced changes, the disease stabilizes and often regresses without the need for treatment. Studies have shown a marked reduction in tumor size with imatinib, a tyrosine kinase inhibitor 7.

A cherub is a toddler or baby angel, often portrayed in art to have chubby cheeks and an upward gaze. In fact, such a divine being is more accurately called a putto, but in modern English usage the terms have become blurred, and patients with cherubism are implied to have cherub-like faces.

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