Tanta Medical Journal

CASE REPORT
Year
: 2014  |  Volume : 42  |  Issue : 1  |  Page : 42--45

Imaging of cherubism: case report and review of the literature


Rasha Elshafey 
 Radiodiagnosis Department, Tanta University Hospital, Tanta, Egypt

Correspondence Address:
Rasha Elshafey
Radiodiagnosis Department, Tanta University Hospital, 31211 Tanta
Egypt

Abstract

Cherubism is a rare osseous disorder of children and adolescents. Although the radiologic characteristics of cherubism are not pathognomonic, the diagnosis is strongly suggested by bilateral relatively symmetric jaw involvement that is limited to the maxilla and mandible. Imaging typically shows expansile remodeling of the involved bones, thinning of the cortexes, and multilocular radiolucencies with a coarse trabecular pattern. Here, we report one child aged 5 years who underwent clinical, radiologic, genotyping, and histopathological evaluation. The patients«SQ» sex, age, and physical characteristics and clinical-radiological presentation were recorded.



How to cite this article:
Elshafey R. Imaging of cherubism: case report and review of the literature.Tanta Med J 2014;42:42-45


How to cite this URL:
Elshafey R. Imaging of cherubism: case report and review of the literature. Tanta Med J [serial online] 2014 [cited 2020 Aug 6 ];42:42-45
Available from: http://www.tdj.eg.net/text.asp?2014/42/1/42/130141


Full Text

 Case report



A 5-year-old boy presented with painless progressive swelling of both cheeks and mandible from the age of 9 months; with development of the teeth, there was progressive dental malformation and loss of teeth, and mild bilateral proptosis more on the right side. On examination, the child had bilaterally symmetrical swelling of the upper and lower jaws, with mild bilateral proptosis and an upward gaze. Many of the upper and lower teeth had been lost.

Genotyping of the patient revealed mutations in the SH3BP2 gene.

Computed tomography (CT) was performed using a 16-detector row CT scanner (Toshiba Aqyiliem 60, Japan).

CT clearly showed the presence of symmetrical, multiloculated cystic lesions affecting the mandible and maxilla. The mandibular condyles were seemingly not involved. The cysts had rounded scalloped margins with extensive expansile remodeling of the maxilla and mandible; contained internal trabeculations and a mildly sclerotic matrix particularly of the outer cortex; and were filled with soft-tissue density material. There was consequent obliteration of the maxillary antrum, with displacement of the unerupted teeth up to the floor of the orbit. CT also clearly depicted the absence of extraosseous soft-tissue extension [Figure 1].{Figure 1}

MRI was performed with a Signa System 1.5 T (GE Medical Systems, USA) on axial, sagittal, and coronal planes, with a slice thickness of 5-7 ram. The T1-weighted scans were obtained with a repetition time of 317 ms and an echocardiographic time of 13 ms. T1-weighted scans were repeated after intravenous injection of contrast medium with 0.1 mmol/l gadolinium-DTPA/kg body weight (Magnevist; Japan Schering, Osaka, Japan) (gadolinium-DTPA-enhanced T1-weighted images).

MRI was performed not only to accurately depict the anatomic location and extent of the lesions, but also to reveal the signal intensity changes in those areas that are apparently normal on radiographs and CT images.

MRI established the lobulated gross masses that were well enhanced bilaterally in both jaws except for the condyles and the mental region of the mandible, and confirmed the lack of orbital involvement. The lesions were shown to be homogeneously isointense to skeletal muscle on T1-weighted imaging and isointense to hyperintense on T2-weighted imaging [Figure 2].{Figure 2}

According to the Seward and Hankey [1] system, the patient is graded as type II.

Histopathological examination showed multiple multinucleated giant cells with ovoid to spindle-shaped cells within a fine fibrillar collagenous stroma, multiple small vessels with endothelial cells, and perivascular capillary cuffing, confirming the diagnosis of cherubism [Figure 3].{Figure 3}

Review of the literature

Cherubism is a benign disease of childhood that is characterized by osseous involvement limited specifically to the mandible and maxilla. It was first described in 1933 by Jones [2] as 'familial multilocular cystic disease of the jaws', but 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 [Figure 4].{Figure 4}

The condition was initially characterized as familial, but both hereditary and sporadic cases have since been described [3]. Bilateral mandibular involvement is a distinguishing feature; only one case report in the literature describes unilateral involvement in an adolescent [3].

The incidence of cherubism is unknown. At least 250 cases have been reported worldwide.

Children typically present as early as 2-3 years of age, with nontender enlargement of the jaw. The lesions characteristically continue a pattern of variable enlargement until puberty, and then they partially or completely regress and show sclerotic involution in adulthood [4],[5].

Cherubism has been described as a subtype of fibrous dysplasia, specifically a hereditary craniofacial fibrous dysplasia, because of the radiographic similarities between the conditions [6].

Cherubism has been classified according to the severity grades, with a supplement (in italics) from the Seward and Hankey [1] system as follows:

Grade I: involvement of the bilateral mandibular molar region and ascending rami, mandible body, or mentis.Grade II: involvement of bilateral maxillary tuberosities as well as the lesion of grade I, diffused throughout the mandible.Grade III: massive involvement of the entire maxilla and mandible except the condyles.Grade IV: involvement of both jaws with condyles.

Recent genetic analysis, however, has shown them to be separate entities. The genetic basis for cherubism was identified in 1999, when the gene responsible for it was mapped to chromosome 4p16.3 [7],[8].

According to the WHO classification [9], cherubism belongs to a group of non-neoplastic bone lesions that affect only the jaws [4]. The radiographic appearance shows bilateral, multilocular, and radiolucent areas within the jawbones. The lesions usually begin around the angle of the mandible and spread to the ascending rami and body of the mandible. With additional lesions, the maxillary tuberosities are involved and spread to all areas including the maxillary processes. The extent of the lesions varies from minor lesions to massive involvement of both jaws [10].

In addition, submandibular lymph node enlargement may also be present [2]. The teeth in the affected regions may be loose and tooth eruption may be delayed [2],[3].

Pathology

On histopathologic evaluation, the lesions show proliferating fibrous tissue containing numerous multinucleated giant cells. The giant cells are foreign body type with five to 20 nuclei. Frequently, spicules of new bone are visible in the fibrous tissue.

Radiographic features

Radiographic features consist of lucent expanded regions within the maxilla and mandible, with soap and bubble appearance. As the lesion ages, it often becomes sclerotic and may reduce in size [11],[12].

Radiographs revealed variably expansile, multiloculated lucent lesions distributed in the maxilla and mandible bilaterally with equivocal involvement of the right mandibular condyle. There was displacement as well as absence of many deciduous and permanent teeth [11],[12],[13],[14],[15].

The lateral view of the skull revealed a soft-tissue density mass in the posteroinferior part of the antra, causing a bulge in the posterior part of the orbital floor. The upper teeth were absent posteriorly, resulting in the visualization of a large part of the hard palate ('hard palate' sign) [16],[17].

CT clearly depicted bilateral osseous involvement and expansile remodeling. CT also accurately delineated the extent of involvement and was especially useful in characterizing the osseous matrix [18].

MRI established the lesions to be homogeneously isointense to skeletal muscle on T1-weighted imaging and heterogeneously isointense to skeletal muscle on fat-suppressed spin-echo T2-weighted imaging, and also evaluated vascular compression [15],[16].

Nowadays, genetic tests should be used for the final diagnosis of cherubism. Being a self-regressing condition, generally, minimally invasive treatment is performed; however, sometimes surgical management is required for cosmetic reasons [19].

 Discussion



Cherubism is a rare disease of autosomal dominant inheritance that is characterized by painless, frequently symmetrical, enlargement of the jaws as a result of the replacement of bone with fibrous tissue [15],[16].

The disease is also called familial fibrous dysplasia of the jaws, but recent genetic investigation has shown it to be a separate entity at the molecular level [7]. Furthermore, Sun et al. [18] mentioned necessity to distinguish cherubism from central giant cell granuloma and giant cell tumor of the jaws, with which it holds a false synonymity.

Marck and Kudryk [19] reported that conventional radiography provided a limited image because it is only two dimensional. However, CT provided a realistic picture of the lesions, showing some aspects that otherwise would not be demonstrable because of superimposition and the anatomic complexity of the jaws. In addition, the 3D formatting contributes to the diagnosis and this is in agreement with the present study, as CT is more accurate in delineation of the bone expansion and plays a useful role in assessing the true extent of the lesions.

The MRI findings of cherubism were first described by Beaman et al. [14] who described cherubic lesions as being nonspecific, homogeneously isointense to skeletal muscle on T1W images, and heterogeneously isointense on fat-suppressed T2W images.

Atalar et al. [20] reported that MRI is helpful for determining soft tissue involvement in patients with aggressive cherubism and for assessing the vascular structures preoperatively; this is also in agreement with our study, as MRI demonstrates signal intensity changes in the areas that are apparently normal on radiographs or CT.

 Conclusion



Cherubism is a rare hereditary benign lesion of the mandible that appears in childhood as bilateral painless swellings and progresses until puberty, then spontaneously regresses. The diagnosis is strongly suggested by bilateral, relatively symmetric jaw involvement that is limited to the maxilla and mandible. Plain radiographs and computed tomography scans are sufficient for diagnosis. MRI is useful to study the soft tissues expansion particularly in the aggressive forms and to establish preoperative vascular assessment. The treatment is plastic and aims to correct the facial deformities.

 Acknowledgements



Conflicts of interest

There are no conflicts of interest.

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