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  Table of Contents    
CASE REPORT  
Year : 2011  |  Volume : 54  |  Issue : 4  |  Page : 793-795
Cherubism - A case report with long term follow up


1 Department of Pathology, Rangaraya Medical College, Kakinada, Andhra Pradesh, India
2 Department of Plastic Surgery, Government General Hospital, Rangaraya Medical College, Kakinada, Andhra Pradesh, India

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Date of Web Publication6-Jan-2012
 

   Abstract 

Cherubism is a rare non-neoplastic disease of the bone characterized by bilateral painless enlargement of the jaws giving a cherubic appearance to the patient. It is an autosomal dominant disorder but may occur sporadically. In this paper, we have tried to explain about the clinical, radiological and histopathologic features of cherubism by presenting a case study. A case study of a 7 year old male patient, who first presented with mandibular bilateral swellings to our department in 1998, has been presented. In-depth clinical, radiological and histopathologic examination was done. An extensive long-term follow-up till 11 years was maintained. When presented for the first time, radiological investigation showed characteristic multilocular lytic lesions of the mandible bilaterally. Histopathological examination of the biopsy specimen showed proliferating fibrous connective tissue interspersed by multinucleated giant cells. It was diagnosed as a case nonfamilial cherubism. Follow-up after 5 years showed involvement of the maxilla as well, which was then corrected by surgical methods. Upon follow up 11 years after the first presentation, it was seen that the lesion was regressing by itself and there was improvement in facial contour. The natural course of Cherubism through its progression, stabilization and involution of the disease after puberty, has been highlighted in this case. More, in-depth studies to understand the nature and the pathogenesis of this condition better are required.

Keywords: Cherubism, diagnosis, pathology

How to cite this article:
Chavali LV, Rao Bhimalingam R M, Sudhakar P V. Cherubism - A case report with long term follow up. Indian J Pathol Microbiol 2011;54:793-5

How to cite this URL:
Chavali LV, Rao Bhimalingam R M, Sudhakar P V. Cherubism - A case report with long term follow up. Indian J Pathol Microbiol [serial online] 2011 [cited 2019 Jun 19];54:793-5. Available from: http://www.ijpmonline.org/text.asp?2011/54/4/793/91509



   Introduction Top


Cherubism is a rare, non-neoplastic, hereditary disorder of children and adolescents, characterized by painless mandibular bilateral swellings' that cause fullness of the cheeks, firm protuberant intra alveolar masses and missing or displaced teeth. Radiologically, it presents as multilocular radiolucencies involving the mandible and/or maxilla and has a characteristic histopathological appearance. [1] It progresses until puberty and shows a partial or complete involution in adulthood.


   Case Report Top


A 7 year old male child was brought to the hospital by his parents for bilateral painless swellings involving the lower jaw, of 8 months duration, in 1998 for the first time. The swellings were gradually increasing in size. There was no significant past medical history [Figure 1]. His younger sibling was normal, and there was no family history suggestive of a similar complaint. On extra-oral examination, there was swelling of both rami of the mandible and a palpable sub-mandibular lymph node on the right side. X-ray revealed well defined multilocular radiolucencies involving the posterior body of the mandible and ascending rami with displaced teeth. Maxillary lesions could not be identified. Biopsy was sent from the jaw swellings and the lymph node was excised.
Figure 1: Clinical photograph of the 7 year old male patient at presentation showing bilateral jaw swellings
Figure 1: a: Biopsy from the jaw swelling showing spindle cell stroma interspersed by multiple osteoclastic giant cells distributed uniformly throughout the section and multiple small vessels during histopathological examination (Hematoxylin and eosin stain, ×100)


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Histopathology revealed spindle cell stroma interspersed by multiple osteoclastic giant cells distributed uniformly throughout the section. Also present were multiple small vessels [Figure 1]a. Perivascular cuffing with eosinophilic material was noted in focal areas. Sections from the lymph node revealed nonspecific reactive changes. The possibilities considered were cherubism, central giant cell reparative granuloma and brown tumors of hyperparathyroidism. Biochemical investigations for serum calcium, phosphorous and alkaline phosphatase levels were found to be within normal limits. A diagnosis of cherubism was made and the patient was kept under follow up with no further surgical intervention. Over a period of five years, the child developed nasal obstruction and malocclusion of teeth [Figure 2]. A Computed tomography (CT) scan revealed further progression in the size of the lesion [Figure 2]a. Surgery was done to relieve the obstruction and the material sent for histopathological examination (HPE) revealed the same picture. Dental malocclusion was partly corrected by extracting few teeth. Latest review showed a visible regression of the lesion with a change in facial contour [Figure 3]. The patient is under follow up till date.
Figure 2: Photograph five years later showing involvement of maxillae and malocclusion of teeth
Figure 2: a: Computed tomography scan surface shaded display image revealing expansile cystic lesions with bone remodeling, a mildly sclerotic matrix, internal trabeculations involving both mandibles and maxillae


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Figure 3: Clinical photograph of the patient 11 years after initial presentation showing beginning of resolution of the cherubic lesion with change in facial contour

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   Discussion Top


Cherubism is a rare familial, autosomal dominant genetic disorder characterized by 100% penetrance in males and 50- 75% penetrance in females, and a great variation in clinical expression. [1] A new mutation with reduced penetrance in males has also been identified. [2] It usually presents as bilateral swellings but cases with unilateral involvement have also been reported. [1] Clinically, affected children are normal at birth and are without any evidence of disease till 14 months to 3 years of age. [3] Symmetric enlargement of the jaw begins after this age, and progresses till 12-15 years of age. At puberty, the lesion begins to regress and remodeling of the jaw continues up to the third decade of life by which time the abnormality usually becomes indiscernible. [3],[4],[5] Signs and symptoms of the disease vary in severity and range from undetectable lesions to grossly distorting maxillary and mandibular swellings causing impairment of speech, swallowing and respiratory problems. [1] The jaw lesions are firm and non-tender. They begin at the angle of the mandible and extend into the ramus and body with or without involvement of the maxilla. Involvement of the maxillary ridge gives rise to a "V" shaped palate and orbital encroachment leading to an "eyes to heaven" appearance. [1] Cervical lymph nodal enlargement caused by reticulo-endothelial hyperplasia is usually an associated feature and this contributes to the patient's full-faced appearance. The lymph nodes are enlarged before 6 years of age and decrease after 8 years of age. [3] Different types of dental abnormalities ranging from delayed eruption, displacement of teeth to tooth resorption are known to occur. [4] The radiographic appearance is characteristic with bilaterally symmetrical well defined multilocular radiolucencies in the mandible. [1] Maxillary involvement is less frequent and less extensive. A radiological grading system has been proposed by Arnott based on the location of the lesion and degree of expansion, which, in a given individual may change depending on the findings at follow up examination. [6] Such variation in grading was observed in our case during follow up. A histological sub typing was proposed by Penarrocha et al.[6] taking into consideration the predominance of giant cells, inflammatory activity, hemorrhages and fibrosis. They found an aggressive disease behavior in a case having increased density of giant cells, but further studies are needed before such a correlation is proven. [5] Mutations in the exon 9 of the SH3 domain binding protein 2 (SH3BP2) gene on Ch 4p band 16.3 have been identified in many families with cherubism. Non-familial cases may also be due to new mutations. [2],[4],[7],[8],[9] These mutations lead to the development of multiple cystic giant cell lesions in the jaw bones in early child hood with stabilization and resorption after puberty. Signals unique to mandible and maxilla, triggered by the eruption of secondary teeth and transmitted throughout the extra cellular matrix are thought to be responsible for the organ specific changes seen in cherubism. [2] So far, no disease causing mutation outside exon 9 in the SH3BP2 gene has been identified, making it specific for the diagnosis of the disease. [7] The treatment is based on the known natural course of the disease and the clinical behavior of the individual case. It ranges from masterly inactivity to recontouring for relieving complications/cosmetic purposes. Therapy with calcitonin has been said to reduce the need for surgery by inducing bone resorption. [10] In conclusion, this is a case of Cherubism showing the classical sequence of progression, complications, and involution which are the main characteristics of the disease.

 
   References Top

1.Hamner JE 3 rd , Ketcham AS. Cherubism: An analysis of treatment. Cancer May 1969;23:1133-43.  Back to cited text no. 1
    
2.de Lange J, van Maarle MC, van den Akker HP, Redeker EJ. A new mutation in SH3BP2 gene showing reduced penetrance in a family affected with cherubism. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007;103:378-81.  Back to cited text no. 2
    
3.Ongole R, Pillai RS, Pai KM. Cherubism in siblings: A Case report J Can Dent Assoc 2003,69:150-4.  Back to cited text no. 3
    
4.Jain V, Gamanagatti SR, Gadodia A, Kataria P, Bhatti SS. Non familial cherubism. Singapore Med J 2007;48: e253-7.  Back to cited text no. 4
    
5.Lannon DA, Early MJ. Cherubism and its charlatans. Br J Plast Surg 2001;54:708-11.  Back to cited text no. 5
    
6.Peñarrocha M, Bonet J, Mínguez JM, Bagán JV, Vera F, Mínguez I. Cherubism: A clinical, radiographic and histopathologic comparison of 7 cases. J Oral Maxillofac Surg 2006;64:924-30.  Back to cited text no. 6
    
7.Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS. Novel mutations in the gene encoding c-Abl binding protein in SH3BP2 causes Cherubism. Am J of Medical Genetics 2003;121:37-40.  Back to cited text no. 7
    
8.Mangion J, Rahman N, Edkins S, Barfoot R, Nguyen T, Sigurdsson A, et al. The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet 1999;65:151-7.  Back to cited text no. 8
    
9.R A Cawson, E W Odell. Cawson's essential of oral pathology and oral medicine 8th ed United Kingdom: Churchill Livingstone Elsevier; 2008. p. 175-7.  Back to cited text no. 9
    
10.Southgate J, Sarma U, Townend JV, Barron J, Flanagan AM. Study of the cell biology and biochemistry of cherubism. J Clin Pathol 1998;51:831-7.  Back to cited text no. 10
    

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Correspondence Address:
Lakshmi V Chavali
Department of Pathology, Rangaraya Medical College, Opposite Government General Hospital, Kakinada - 533 004, East Godavari District, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.91509

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