Cherubism has historically been considered a variant of fibrous dysplasia, but in reality 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 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.
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 appearance. As the lesion ages, it often becomes sclerotic and may reduce in size 2-3.
Treatment and prognosis
Despite the pronounced changes, the disease stabilises and often regresses without the need for treatment.
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.
- 1. Beaman FD, Bancroft LW, Peterson JJ et-al. Imaging characteristics of cherubism. AJR Am J Roentgenol. 2004;182 (4): 1051-4. AJR Am J Roentgenol (full text) - Pubmed citation
- 2. Tiziani V, Reichenberger E, Buzzo CL et-al. The gene for cherubism maps to chromosome 4p16. Am. J. Hum. Genet. 1999;65 (1): 158-66. doi:10.1086/302456 - Free text at pubmed - Pubmed citation
- 3. Larheim TA, Westesson PA. Maxillofacial Imaging. Springer. ISBN:3540786856. Read it at Google Books - Find it at Amazon
- 4. US National Library of Medicine. Genetics Home Reference: Cherubism. https://ghr.nlm.nih.gov/condition/cherubism#genes
- 5. Petkovska L, Ramadan S, Aslam MO. Cherubism: review of four affected members in a Kuwaiti family. Australas Radiol. 2004;48 (3): 408-10. doi:10.1111/j.0004-8461.2004.01329.x - Pubmed citation
- 6. Jain V, Sharma R. Radiographic, CT and MRI features of cherubism. Pediatr Radiol. 2006;36 (10): 1099-104. doi:10.1007/s00247-006-0261-8 - Pubmed citation
Lucent lesions of the jaw