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South African Dental Journal

versão On-line ISSN 0375-1562
versão impressa ISSN 0011-8516

S. Afr. dent. j. vol.77 no.3 Johannesburg Abr. 2022

http://dx.doi.org/10.17159/2519-0105/2022/v77no3a9 

RADIOLOGY CASE

 

Maxillofacial Radiology 198

 

 

C SmitI; L RobinsonII

IBChD, MSc (Maxillofacial and Oral Radiology). Department of Oral Pathology and Oral Biology, University of Pretoria. ORCID: 0000-0003-4047-6356
IIBChD, PDD (MaxillofacialRadiology), PDD (Forensic Odontology), MChD (Oral Path), FC Path (SA) Oral Path. Department of Oral Pathology and Oral Biology, University of Pretoria. ORCID: 0000-0002-0549-7824

Correspondence

 

 

CASES

Two paediatric male patients presented with painless bilateral facial swellings (Figures 1 and 2A & B). What are the pertinent radiological findings and your diagnostic hypothesis?

 

INTERPRETATION

Both patients presented with bilateral multilocular radiolucent lesions that were highly expansile with varying degrees of tooth displacement, including multiple impactions. In case 1 the lesions were limited to the mandible, whereas case 2 presented with extensive involvement of both jawbones.

Cherubism is a rare bone disorder that may be inherited in an autosomal dominant pattern (68% of cases) with varying penetrance, or in rarer instances may occur sporadically. The aetiopathogenesis involves a mutation of the SH3 domain-binding protein 2 (SH3BP2) resulting in extensive giant cell lesions replacing bone.1 SH3BP2-dependant signal transduction seems to be involved in the regulation of osteoclastic and osteoblastic activities.2 Clinically, patients present with symmetrical expansion of the jaws that characteristically undergo regression after puberty. Maxillary involvement may lead to displacement of the orbital floor giving an 'eyes turned to heaven' or 'plumped-cheek angel' appearance. Cherubism shows a slight male predominance, presenting at a mean age of 6 years. Radiologically, cherubism presents with highly characteristic features of bilateral well-defined multilocular radiolucent lesions with significant bony expansion. Tooth displacement (95%), tooth agenesis (62%), root resorption (40%) and cortical destruction (35%) are also commonly seen.1 The second and third molars are frequently absent, as noted in case 2.2 This could be explained by the correlation between the timing of development of cherubism and the associated missing molars. Others speculate that this presentation may be related to the pathogenesis, as a genetically determined alteration of tooth germ development.2 Unilateral cases have been reported, however strict clinicopathological workup is required to rule out other differential diagnoses. Due to spontaneous regression after growth, longitudinal observation is the suggested management modality. Numerous drugs including bisphosphonates, calcitonin, interferon, and imatinib, amongst others, have been used with varied outcomes. Currently, due to limited studies on these therapeutic approaches, conclusions on their effectiveness cannot be drawn. Surgical intervention is only indicated in the presence of functional or aesthetic impairments, as some cases treated via surgical intervention resulted in rapid regrowth.1

 

REFERENCES

1. Chrcanovic BR, Guimarães LM, Gomes CC, Gomez RS. Cherubism: a systematic literature review of clinical and molecular aspects. International Journal of Oral and Maxillofacial Surgery. 2021 Jan 1;50(1):43-53.         [ Links ]

2. Hyckel P, Berndt A, Schleier P, Clement JH, Beensen V, Peters H, Kosmehl H. Cherubism-new hypotheses on pathogenesis and therapeutic consequences. Journal of Cranio-Maxillofacial Surgery. 2005 Feb 1;33(1):61-8.         [ Links ]

 

 

Correspondence:
Chané Smit
Department of Oral Pathology and Oral Biology
University of Pretoria
Tel +27 (0)12 319 2311
Email: chane.smit@up.ac.za

 

 

Authors contribution:
Liam Robinson: 50%
Chané Smit: 50%

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