Short communicationThe aggressive form of cherubism: Report of two cases in unrelated families
Introduction
Cherubism is a rare, non-neoplastic lesion that causes painless symmetrical enlargement of the jaws, usually with a family history.1 The clinical appearance varies from nearly indiscernible swelling of a single jaw to gross enlargement of both jaws.2 We describe two cases of cherubism in an unusually aggressive and extensive form and an apparent family history in two unrelated Chinese families.
Section snippets
Case 1
A 10-year-old girl was referred with bilateral overgrowth of the mandible in November 2000. The mandibular swelling appeared at the age of 7 years and expanded rapidly at the age of 9. An investigation of the family history showed that three members had been affected with the disorder in three generations. The child's grandfather had curettage twice when he was 28 and 32 years old, because of enlargement of the mandible. Two masses in the maxilla and mandible were excised in the girl's father
Case 2
A 33-year-old man was referred with an enlarged mandible in October 2003. The lesion was first noticed at age 18 and grew rapidly over the next 5 years. He was one of seven siblings; a 31-year-old sister had the same disorder when she was 16 years old, and the mandible was excised and replaced by autotransplanted rib at the age of 20. The patient's father had expansion of the mandible when he was 17 years old, which progressively extended to a huge size over several years and remained untreated
Discussion
Jones first reported cherubism in 1933, and described it as “familiar multilocular cystic disease of the jaws” based on its radiographic appearance.3 Whitaker et al. differentiated giant cell granulomas into aggressive and nonaggressive types, and the cases presented here can be regarded as aggressive.4, 5
Cherubism usually arises around ages 2–4, is most active between the ages of 3 and 7 years, often enlarges progressively until puberty, and then gradually regresses.6 Some cases have been
Acknowledgements
This study was supported by grant no. 30271415 from the National Science Foundation of China and grant no. 2004ABC004 from Innovative Research Team of Hubei province.
References (10)
- et al.
Cherubism: report of an aggressive case and review of the literature
J Oral Maxillofac Surg
(1993) - et al.
Vascular transformation in cherubism
Oral Surg Oral Med Oral Pathol
(1993) - et al.
Cherubism: report of a case showing regression without treatment
J Oral Maxillofac Surg
(1992) - et al.
Cherubism
Int J Oral Maxillofac Surg
(1985) - et al.
The gene for cherubism maps to chromosome 4p16.3
Am J Hum Genet
(1999)
Cited by (8)
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice
2015, BoneCitation Excerpt :At present, standard management of cherubism symptoms is generally limited to supportive care including observation of the disease course with the expectation that lesions may regress after puberty [34]. While lesions in human cherubism are usually localized to the jaw region [35–37] and functional or cosmetic problems during the active phase of the disease differ between affected children, aggressive cases involving nasal obstruction, proptosis, or severe facial deformities have been reported [38–42]. To correct upward gazing and visional disturbance, orbital surgery may be required [43].
Clinical and genetic analysis of patients with cherubism
2017, Oral DiseasesCherubism: An unusual study with long-term follow-up
2016, Journal of Craniofacial SurgeryCherubism - A case report
2013, Rentgenologiya i RadiologiyaCherubism: Best clinical practice
2012, Orphanet Journal of Rare DiseasesClinical and radiological features of nonfamilial cherubism: A case report
2012, Polish Journal of Radiology
- 1
Both authors contributed equally to the work.