Cherubism

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

Cherubism is inherited as an autosomal dominant 2 disorder of 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 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.

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 appearance. As the lesion ages, it often becomes sclerotic and may reduce in size 2-3.

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

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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Article information

rID: 1105
System: Head & Neck
Section: Pathology
Synonyms or Alternate Spellings:

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