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Go Back       IAR Journal of Medical Case Reports | IAR J Med Cse Rep. 2(2) | Volume:2 Issue:2 ( April 10, 2021 ) : 20-26
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DOI : 10.47310/iarjmcr.2021.v02i02.012       Download PDF       HTML       XML

CT Imaging Features in Familial Cherubism: Case Report with Review of Literature


Article History

Received: 18.03.2020 Revision: 23.03.2020 Accepted: 30.03.2021 Published: 10.04.2021


Author Details

Kanika Sekhri Sethi1, Sachal Sharma1, Gaurav Sethi2 & Payal Malhotra3


Authors Affiliations

1BLK Super Speciality Hospital, New Delhi, India.

2Good Hands Specialist Child Care, Delhi NCR, India

3Rajiv Gandhi Cancer Institute and Research Center, New Delhi, India


Abstract:

Background: Cherubism is a rare fibro-osseous disease with genetic predisposition, characteristically involving the mandible and maxilla and causing their diffuse enlargement.The course and presentation of the disease is variable, following a benign course with remission of disease in a spontaneous manner with variable degrees of complications and residual disease. The CT imaging features of Cherubism are consistent with multilocular, variable size, irregular radiolucencies involving the maxilla and mandible with sparing of mandibular condyles. Case Report: Brothers, aged 9 and 11 years, presented with painless progressive swelling in bilateral cheeks and mandible. Non contrast CT with 3D reconstruction showed diffuse and extensively involved maxilla and mandible with gross bony expansion and appearance of irregular multiloculated areas of reduced bone density with hallmark imaging feature of sparing of bilateral mandibular condyles. Histopathological evaluation of biopsy of the mandible from left side of both the brothers was done.


Keywords: Cherubism, mandible, maxilla, CT, condyles.


Introduction

Cherubism is a rare, hereditary, autosomal dominant, fibrosseous disease involving the maxilla and mandible. The disease is self-limiting and shows spontaneous remission in later life. It is assumed that earlier the appearance of first symptoms of the disease, the more severe is the disease process and hence the bony deformity (Ongole, R. et al., 2003).


The term “Cherubism” was coined by Jones in 1933 (Jones,W.A. 1933) who described it as a “familial multilocular cystic disease of the jaws” resulting in full round face and an upward cast of the eyes in the patients that make them appear like angels from Renaissance paintings, so Jones suggested the name “Cherubism”. Others have described orbital involvement seen as proptosis, looking towards heaven appearance (Kozakiewicz, M. et al., 2001). Earlier it was thought that Cherubism has only familial predisposition, but later literature has shown not only sporadic appearance of cases but also its genetic predisposition.


Case report

Brothers, aged 9 and 11 years, presented with progressive painless swelling of bilateral cheeks and mandible (Figure 1). On examination, there was symmetrical swelling of upper & lower jaws in both patients. No proptosis was noted. No abnormalities were noted in rest of the general physical examination. The parents were also examined and the mother had a mild swelling in upper & lower jaw region (Figure 2). She gave a history of marked swelling in childhood which regressed after adolescence. However, no imaging during childhood was available.


Figure image is available at PDF file

Figure 1: 11 year (A) and 9 year (B) old brothers with painless swelling of bilateral cheeks and mandible.


Figure image is available at PDF file

Figure 2: Mother of the boys in fig. 1 presenting with mild swelling in the upper and lower jaw region.


No similar swelling was noted in the father.

Non contrast computed tomography of the boys was performed on 128 detector row PHILIPS CT scanner with CT MIP images and 3D reconstruction images were generated. The images showed destructive lesions in maxilla and mandible with bony expansion, thinning of cortex, cortical breach at places and gross bone remodeling giving a `soap bubble` appearance, with characteristic sparing of bilateral mandibular condyles (Figure 3 and 4). There was marked bony expansion and overgrown body of the maxilla. These imaging features are a hallmark of Cherubism.


Figure image is available at PDF file

Figure 3(A,B,C)


Figure image is available at PDF file

Figure 4(A,B,C,D)


Figure 3 and 4: CT coronal bone window images (Fig. 3A and B and fig. 4A, B and C) with 3D reconstruction (Fig. 3C and 4D) of the skull and face of the 11-year-old boy(Fig. 3) and the 9-year-old boy(Fig. 4) shows destruction of the maxilla and mandible with soap bubble-like bone remodeling, sparing of the mandibular condyles, and thinning with cortical breach at places of the adjacent cortical rims.


CT scan of the mother showed mild expansion of the mandible with a few lytic areas. The mandible was edentulous. Maxilla was also edentulous however no bony lesion was seen (Figure 5).


Figure image is available at PDF file

Fig 5(A,B,C,D): CT coronal bone window images(5 A, B and C) and 3D reconstruction (5D) of the mother shows mild expansion of the mandible with a few lytic areas. The mandible is edentulous. Maxilla is also edentulous however shows no bony lesion.


Biopsy material taken from the left mandible of both the boys revealed multiple variable size osteoclast- like giant cells in the background of vascularised fibrous stroma (Figure 6) consistent with the characteristics of Cherubism and thus confirming the diagnosis.

Figure image is available at PDF file

Fig.6: Histopathology of the biopsy material from left mandible: Multiple variable size osteoclast- like giant cells in the background of vascularised fibrous stroma.


Discussion

Cherubism is a genetic disease with an autosomal dominant pattern of transmission and variable clinical presentation in the patients. Males are affected more than females, with male penetrance upto 100% and penetrance in females ranging from 50-70% (Özkan, Y. et al., 2003; Silva, E. C. et al., 2007; Lannon, D. A., & Earley, M. J. 2001; & Peñarrocha, M. et al., 2006). Earlier it was considered a familial entity but literature has shown many sporadic cases which may be attributed to new mutations or incomplete penetrance. The most common clinical presentation is mandibular painless swelling which progresses until puberty before regressing spontaneously. Residual deformity varies from patient to patient and many of the deciduous and permanent teeth may be absent or displaced.


CT scanning helps in defining the extent of disease (Jones,W.A. 1933; Jain, V., & Sharma, R. 2006; & Myga-Porosiło, J. et al., 2011). It is often difficult to define the extent of deformity on axial base images, therefore three-dimensional reconstruction images along with multiplanar images are acquired (Atalar, M. H. et al., 2004). Magnetic resonance imaging (MRI) has a role in defining the accurate extent of the disease process and relationship of the lesions to the optic nerve in patients with ocular manifestations (Jones,W.A. 1933; Silva, E. C. et al., 2007; & Jain, V., & Sharma, R. 2006). None of the patients in our case report had any ocular manifestation, therefore MRI was not indicated.


Radiographically, lesions reveal bony expansion with remodeling of the bones with trabeculated mildly sclerotic matrix. There is usually no associated periosteal reaction. CT reveals expansile remodeling of the bone with cortical thinning. Lesions appear as cystic multilocular radiolucencies, which often begin near the mandibular angle and then spread to mandibular ramus and body in a progressive manner. There is characteristic sparing of bilateral mandibular condyles. Involvement of body of maxilla may also be seen to occur at the same time. There is involvement of unerupted teeth frequently by lesions (Silva, E. C. et al., 2007). The radiological findings in our cases are similar to the findings described in literature.


Imaging features may be similar in fibrous dysplasia when involving only the jaw bone. However, features in history which favour a diagnosis of Cherubism are the disease being limited to the maxilla and mandible, and spontaneous involution by the time the patient achieves puberty (Silva, E. C. et al., 2007; & Yamaguchi, T. et al., 1999). Moreover, patients suffering from fibrous dysplasia would usually not present with swollen cheeks, derangement of the teeth or upward turning of the eyes. The two conditions can be distinguished histologically by the presence of multinucleated osteoclast-like giant cells in cherubic lesions while these are rarely seen in fibrous dysplasia. Histopathology of fibrous dysplasia lesions shows dense, fibrous stroma with atypical trabeculae(Chinese character architecture) and no osteoblastic rimming.


The other differentials of Cherubism which need to be considered in relation to their imaging features include brown tumor of hyperparathyroidism, Jaffe-Campanacci syndrome and familial gigantiform cementoma. These diseases run a clinically different course from Cherubism and a detailed clinical history can help distinguishing the diseases.


Familial gigantiform cementoma is also a rare disorder involving mandible and maxilla, with the characteristic feature of production of cementum in the disease affected areas. Finical et al., (1999) published a reviewed case series in a single family and described lesions involving not only mandible and maxilla but also extending into the orbits and nasal septum. The involvement of these areas is uncommon in Cherubism. The lesions of gigantiform cementoma are located primarily in the maxilla and cause focal enlargement, rather than diffuse enlargement as seen in Cherubism. Histologically, cementomas differ from Cherubic lesions in the fact that they contain cementum with absence of multinucleated giant cells that are characteristically seen in cherubic lesions..


A number of other gentic disorders may be associated with Cherubism. These may include conditions like Noonan’s syndrome (pseudo-Turner syndrome), Ramon’s syndrome, Jaffe-Campanacci syndrome, Neurofibromatosis type -1, and Fragile X syndrome (Özkan, Y. et al., 2003; Roginsky, V. V. et al., 2009; Martínez-Tello, F. J. et al., 2005; Neumann, T. E. et al., 2018; & Slezak, R. et al., 2010).


In 1992, a grading system was proposed by Marck and Kudryk with a supplement from Steward and Hankey system. The grading system was based on the location and extent of the cherubic lesions in the mandible and maxilla and its ocular extension.


The grading system is as follows 20(5):

  1. Grade I: involvement of the bilateral mandibular molar region and ascending rami, mandible body, or mentis .

  2. Grade-II: involvement of bilateral maxillary tuberosities as well as the lesion of grade I, diffused throughout the mandible.

  3. Grade III: massive involvement of the entire maxilla and mandible except the condyles.

  4. Grade IV: involvement of both jaws with condyles as well as the involvement of the orbits with ocular disturbance.


There are no established guidelines for the treatment of Cherubism. Even though the treatment needs to be individualized. No active treatment is required in most cases and the accepted approach is to wait for natural involution until after puberty.The disease may undergo gradual spontaneous involution when the patient is in the late teens. This involution may be partial or complete, with remineralization of the lesions followed by sclerotic remodelling in adulthood. Normalization of the bone structure may occur between the third and fourth decade of life (Özkan, Y. et al., 2003).


The lesions involving the maxilla are first to regress, whereas the mandibular lesions are often still active at the age of twenty. There may be near normalization of the facial appearance by the fourth or fifth decade of life. It is not uncommon for patients to seek surgical recontouring of their residual deformity during their twenties (Jones,W.A. 1933; Özkan, Y. et al., 2003; Beaman, F. D. et al., 2004; & Jain, V., & Sharma, R. 2006). Teeth agenesis, premature loss of deciduous teeth, abnormal patterns of teeth eruption and the presence of ectopic or retained teeth are some of the dental abnormalities caused by the lesions in Cherubism (Özkan, Y. et al., 2003). Once skeletal maturity is achieved, extraction of teeth in the area of involvement are carried out (Lannon, D. A., & Earley, M. J. 2001).


Cherubism is usually a self-limiting condition and regresses with age. Therapeutic decisions are based on the severity of the disease and its clinical course. Treatment is generally required for aesthetic purpose or functional disabilities. Prudence mandates waiting until the end of puberty before performing a surgery in most cases. Surgery is usually considered only in patients with more aggressive disease causing marked functional impairments such as difficulty in chewing or swallowing, severe speech impairment and ocular disturbances. Surgery appears to be rational choice in the presence of major deformities that can even lead to psychological problems for the patient.


The natural course of the disease is not modified by surgical removal of the fibrotic lesions and at best it gives temporary relief. If the surgery is performed during the active phase, it may sometimes not only lead to rapid recurrence but may also change the natural course of the disease leading to exacerbation of the disease process (Özkan, Y. et al., 2003; Lannon, D. A., & Earley, M. J. 2001; Peñarrocha, M. et al., 2006; & Roginsky, V. V. et al., 2009).


Medical treatment includes use of Calcitonin. It inhibits bone resorption by multi-nucleate cells (osteoclasts) and is known to cause regression in central giant-cell granulomas of the jaws and is seen to be effective in reducing cystic lesions in the jaw in patients with Cherubism (Özkan, Y. et al., 2003; Silva, E. C. et al., 2007; & Peñarrocha, M. et al., 2006).


Conclusion

Despite the presence of typical radiologic features, the confirmative diagnosis of Cherubism requires combining the information from detailed clinical history, radiologic features and finally the histopathological analysis to differentiate it from the related entities.


Acknowledgements: None.


References

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