Cherubism

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

Epidemiology

Cherubism is inherited as an autosomal dominant disorder of variable penetrance, with onset in early childhood (typically in the 3-4 years of age) ¹. Interestingly penetrance is dependent on gender: 100% in males, 50-70% in females ². 

Clinical presentation

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

• bilateral usually symmetric jaw fullness with 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.

Pathology

Histological features are indistinguishable from giant cell granuloma ³.

Radiographic features

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

Treatment and prognosis

Despite the pronounced changes, the disease stabilises and often regresses without the need for treatment.