Cherubism with multiple dental abnormalities: a rare presentation

Abstract

Cherubism is a progressive, hereditary fibro-osseous lesion exclusively affecting the jaw bones. It is caused by the abnormal functioning of osteoblasts and osteoclasts, leading to replacement of normal bone by cellular fibrous tissue and immature bone, which produces painless progressive growth of the jaw, with a round facial appearance. It was first described in 1933 by Jones as ‘familial multilocular cystic disease of the jaws’. The term ‘cherubism’ was later coined to describe the rounded facial appearance resulting from jaw hypertrophy that was reminiscent of cherubs depicted throughout Renaissance art. The bony lesions generally occur at an early age, affect one or both jaws symmetrically, and grow progressively until puberty. Spontaneous regression is seen in most cases, although surgical re-contouring may be required for others for aesthetic reasons.

Clinical and genetic analysis of patients with cherubism

“…In more aggressive cases, lesions may also grow into the orbit floor and the whitish sclera below the iris may become visible, giving rise to the "looking-up-to-heaven" appearance (Kömerik et al, 2014). Dental anomalies, mainly tooth displacement and impaction, are also documented (Misra et al, 2014;Prescott et al, 2013), and the bilateral multilocular radiolucent aspect, observed in all cases of this series, is typical of the disease (Silva, Silva, & Vieira, 2007;Wang et al, 2006).…”

“…In addition to some clinical and radiographic grading systems developed to determine the behavior of each case (Seward & Hankey, ; Motamedi, ; Raposo‐Amaral et al., ; Roginsky et al., ; Misra et al., ), the utility of different microscopic features and molecular markers that could represent more reliable auxiliary tools with a stronger prognostic potential for patients affected by cherubism has been investigated. Kadlub et al.…”

“…Panoramic radiograph confirmed maxillary and mandibular involvement by the disease, described as multilocular, bilateral expansive radiolucencies that do not affect the mandibular condyle (d). The follow-up of the patient shows stabilization of lesions without remission and involution [Colour figure can be viewed at wileyonlinelibrary.com] , 1998;Raposo-Amaral et al, 2007;Roginsky et al, 2009;Misra et al, 2014), the utility of different microscopic features and molecular markers that could represent more reliable auxiliary tools with a stronger prognostic potential for patients affected by cherubism has been investigated Kadlub et al (2016),. using a series of 11 patients, recommended the use of the nuclear factor of activated T cells 1 (NFATc1) protein nuclear localization and of the tartrateresistant acid phosphatase (TRAP) activity, together with clinical and radiographic parameters, as determinants of disease clinical behavior.…”

Cherubism: Case Report and Review of the Literature

“…Ameloblastoma, odontogenic myxoma, and aneurysmal bone cysts manifest as multilocular lesions in the mandibular ramus region and the lesions are definitely unilateral. 6,16 However the bilateral symmetric lesions, multilocular appearance, the anterior displacement of teeth and typical facial appearance are characteristics in cherubism that help with the differential diagnosis. 6 Multiple odontogenic keratocysts in Gorlin-Goltz syndrome may bear some radiographic similarity to cherubism, but this syndrome usually also causes skin lesions or rib abnormalities without the characteristic facial swelling.…”

“…15 The etiology of cherubism is not known exactly. 16 Recent studies have identified mutations in the SH3-binding protein 2 (SH3BP2) gene on chromosome 4p16.3; these mutations are thought to be responsible for cherubism. 17 Genetic mutations may not be detected in 20% of affected individuals and this suggests possible genetic heterogeneity.…”