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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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CASE REPORT
Year : 2007  |  Volume : 25  |  Issue : 1  |  Page : 27-29
 

Cherubism in siblings: A case report


Department of Pediatric Surgery, Lokmanya Tilak Muncipal General Hospital, Sion, Mumbai, Maharashatra, India

Correspondence Address:
P Kothari
Department of Pediatric Surgery, Room No. 440, College Building, Lokmanya Tilak Muncipal general Hospital, Sion, Mumbai - 400 022, Maharashatra
India
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DOI: 10.4103/0970-4388.31986

PMID: 17456964

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   Abstract 

Cherubism is a benign disease of bones affecting the jaws and giving a characteristic cherubic appearance to the patient. On radiography, the lesions exhibit bilateral multilocular radiolucent areas. Histopathology shows numerous multinucleated giant cells in the background of proliferating fibrous connective tissue. Cherubism can be a solitary case. The present report describe cherubism in two siblings and briefly review the literature on this subject.


Keywords: Cherubism, siblings, giant cells


How to cite this article:
Sarda D, Kothari P, Kulkarni B, Pawar P. Cherubism in siblings: A case report. J Indian Soc Pedod Prev Dent 2007;25:27-9

How to cite this URL:
Sarda D, Kothari P, Kulkarni B, Pawar P. Cherubism in siblings: A case report. J Indian Soc Pedod Prev Dent [serial online] 2007 [cited 2014 Oct 1];25:27-9. Available from: http://www.jisppd.com/text.asp?2007/25/1/27/31986



   Introduction Top


Cherubism is a non-neoplastic progressive hereditary disease affecting the jawbones. It occurs bilaterally and symmetrically. Jones in 1933 first described this condition in three Jewish siblings as 'familial multilocular cystic disease of the jaws'. [1] The term 'cherubism' is derived form the word 'cherub' which means angels with childish full cheeked face often gazing upwards as if 'eyes to heaven' as often depicted in Renaissance art. [2] This case study illustrates cherubism diagnosed in two siblings.


   Case Report Top


Two siblings, 5-year-old (ANJ) and 8-year-old (AJT) boys were brought with complaints of bilateral painless swellings of the jaw. Both did not have contributory past history. ANJ had gradual and progressive rise in the size of swelling since one year. Examination showed bilateral non-tender enlargement of the maxilla giving chubby appearance to both cheeks [Figure - 1]. Intraoral examination revealed multiple swelling on mandible and maxilla, which were sessile, hard, non-tender and covered with pink mucosa [Figure - 2]. Dental examination was normal. Eyes were upturned with sclera visible beneath the iris. (Giving eye to heaven appearance). Elder brother (AJT) also had similar maxillary swellings since 2 years, which were bilateral, non-tender, and hard on palpation. Dental examination was normal. Rest of the skeletal system was normal. No other family members were affected. There were no syndromic associations. Orthopantomogram (OPG) of the siblings revealed bilateral radiolucencies involving the ramus, mandible, and maxillary tuberosities. Condyles and coronoid processes of mandible were not affected [Figure - 3]. OPG of elder brother also showed similar multiple symmetrical radiolucencies. Blood investigations (serum calcium, phosphorus, alkaline phosphatase) were in normal range. Histopathology of the lesions in both brothers revealed numerous multinucleated giant cells scattered in stroma of mononuclear spindle cells [Figure - 4]. Cherubism was diagnosed in both the cases. Conservative line of treatment was planned in view of asymptomatic and self-limiting course of the disease. Parents were counseled accordingly. Patients are on regular follow up.


   Discussion Top


Cherubism was diagnosed on histopathological examination. Other differential diagnosis can be hyperparathyroidism, giant cell tumor, peripheral, and central giant cell lesions of the jaw. Normal level of serum calcium, phosphorus, and alkaline phosphatase rules out hyperparathyroidism. Giant cell tumor commonly involves epiphyses of long bones. Peripheral giant cell lesion is usually related to local factor of gingiva or periosteum. Central giant cell lesions develop in anterior mandible in young females. [3] Cherubism synonymous with familial or hereditary fibrous dysplasia, bilateral giant cell tumor and familial multilocular disease is a rare benign condition with autosomal dominance inheritance. It is one of the very few genetically determined osteoclastic lesions in the human body. [4] It has 100 and 50-70% penetrance in males and females, respectively. However, there is a great variation in clinical expression. Cases with no family history or unilateral disease have been described. These cases may be secondary to newer mutation or incomplete penetrance. [4] The locus for cherubism gene is chromosome 4p16. [4] Tiziani concluded locus to be located on the telomeric side of D4S1582. [5] Ueki detected point mutation at SH3 binding protein SH3BP2. [6] Cherubism can be associated with Noonan's syndrome, [7] neurofibromatosis, [8] lesion in humerus, gingival fibromatosis, psychomotor retardation, orbital involvement and obstructed sleep apnea syndrome. [4] Cherubism manifests at around 14 months to 3 years of age. Earlier the appearance, more rapid is the progression. [4] In our case it manifested in first decade. Disease progress usually slows down at around 5 years of age and stops by 12 to 15 years. Jaw remodeling continues till 3rd decade and then condition may be subtle. At times it may attain grotesquely deforming jaw overgrowth causing respiratory obstruction and difficulty in vision and hearing. Radiologically cherubism is characterized by bilateral multilocular cystic expansion of jaws commonly involving ramus and body of mandible. Condyles are always spared [4] as in our case. Temporal bone may also be involved. Extracranial involvement is rare. [9] Maxillary lesions may easily escape early detection because of overlapping with sinuses and nasal cavity. [4] Destruction of alveolar cavity may displace the teeth producing radiological appearance of "floating teeth syndrome". In adulthood cystic areas become remodeled giving irregular sclerosed appearance. [4] Histopathology reveals numerous multinucleate giant cells which are tartarate resistant acid phosphatase positive (characteristic of osteoclast). These cells are scattered in between mononuclear spindle cells. Eosinophilic cuffing of vessels is specific for cherubism. [6] However its absence doesn't rule out the disease. Older resolving lesions show abundance of fibrous tissue with decrease in giant cells and formation of new bone. [4] Treatment of cherubism is based on the natural history of the disease and clinical behavior in individual case. Most of the cases require no treatment. Surgery should be reserved for the cases presenting with ugly features or with functional abnormality. [10] Curettage is surgery of choice. However simple countering of the lesion has also produced equally good cosmetic appearance. [4] Liposuction has also been used to achieve good contour. [11] Surgery gave good immediate results, arrested active growth of remnant cherubic lesions and even stimulated bone regeneration. [12] Radiotherapy is contraindicated because of fear of retardation of jaw growth, radio osteonecrosis and chances of malignant degeneration. Medical therapy like calcitonin is theoretically appropriate but without proven results. Recent advancement in understanding genetic based pathogenesis of cherubism may bring us closer to genetic therapy. [7]

 
   References Top

1.Jones WA. Familial Multilocular cystic disease of the jaws. Am J Cancer 1933;17:946-50.  Back to cited text no. 1    
2.Gomes MF, de Souza Setubal Destro MF, de Freitas Banzi EC, dos Santos SH, Claro FA, de Oliveira Nogueira T. Aggressive behaviour of cherubism in teenager: 4 years of clinical follow up associated with radiographic and histological features. Dentomaxillofac Radiol 2005;34:313-8  Back to cited text no. 2  [PUBMED]  [FULLTEXT]
3.Silva EC, de Souza PE, Baretto DC, Dias RP, Gomez RS. An extreme case of cherubism. Br J Oral Maxillofac Surg 2002;40:45-8.  Back to cited text no. 3    
4.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. 4  [PUBMED]  [FULLTEXT]
5.Tiziani V, Reichenberger E, Buzzo CL, Niazi S Fukal N, Stiller M, et al. The gene for cherubism maps to chromosome 4p16. Am J Hum Genet 1999;65:158-66.  Back to cited text no. 5    
6.Ueki Y, Tizani V, Santanna C, Maulik C, Garfinkle J, Ninomiya C, et al . Mutation in the c-Abl-binding protein SH3BP2 cherubism. Nat Genet 2001;28:125-6.  Back to cited text no. 6    
7.Jafaraz T, Ferimazova N, Reichenberger E. Noonan Like syndrome mutation in PTPN11 in patients diagnosed with cherubism. Clin Genet 2005;68:190-1.  Back to cited text no. 7    
8.Martinez-Tello FJ, Manjon-Luengo P, Martin-Perez M, Montes-Moreno S. Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: A previously undescribed association of findings. Skeletol Radiol 2005;34:793-8.  Back to cited text no. 8  [PUBMED]  [FULLTEXT]
9.Petkovaska L, Ramadan S, Aslam MO. Cherubism: Review of four affected members in a Kuwaiti family. Australas Radiol 2004;48:408-10.  Back to cited text no. 9    
10.Timosca GC, Galesanu RM, Cotutiu C, Grigoras M. Aggressive form of cherubism: Report of case. J Oral Maxillofac Surg 2000;58:336-44.  Back to cited text no. 10  [PUBMED]  
11.Dubin B, Jackson IT. The use of liposuction to countour cherubism. Plast Reconstr Surg 1990;86:996-8.  Back to cited text no. 11  [PUBMED]  
12.Meng XM, Yu SF, Yu GY. Clinicopathologic study of 24 cases of cherubism. Int J Maxillofac Surg 2005;34:350-6.  Back to cited text no. 12    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]


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