Cherubism

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

Epidemiology

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 in the 3-4 years of age). Interestingly, penetrance is dependent on gender: 100% in males, 50-70% in females. 

Clinical presentation

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 ^2-3,3.

Pathology

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

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

Treatment and prognosis

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

History and etymology

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.