IJCRI – International Journal of Case Reports and Images, Vol. 4 No. 5, May 201 3. ISSN – [0976-31 98]

IJCRI 201 3;4(5):260–265.www.ijcasereportsandimages.com

Cherubism: A case reportPriya Singh, Abhinav Singh, M Srinivasa Raju

ABSTRACTIntroduction: Cherubism is a rare, non­neoplastic, fibro­osseous disorder seen inchildren which is characterized by bilateralpainless enlargement of the jaws giving acherubic appearance to the patient. It is anautosomal dominant disorder but may occursporadically as well. The treatment ofcherubism is contentious. It is said that thedisease regresses by itself and even afterregression, if any asymmetry is seen, the bonydeformity can be corrected by decortications ofbone and osseous shaving. Case Report: Wedescribe a rare case of cherubism in a child whostarted developing bilateral, painless, facialswelling at the age of five years which continuedtill the age of twelve years without anyregression of the lesions. Based on clinical,radiographical and histopathological findings, adiagnosis of cherubism was made. Conclusion:Cherubism should be considered in thedifferential diagnosis of young patients whopresent with bilateral mandibular swelling.Comprehensive clinical, radiological, and

histopathological evaluation can facilitate thediagnosis of cherubism.Keywords: Cherubism, Mandible, Follow­up,Bilateral

*********Singh P, Singh A, Raju MS. Cherubism: A case report.International Journal of Case Reports and Images2013;4(5):260–265.

*********doi:10.5348/ijcri­2013­05­308­CR­5

INTRODUCTIONCherubism is a benign condition that involvesbilateral swelling of the maxilla and or the mandible. Itwas first described by Jones in 1933 as a familialmultilocular cystic disease of the jaws [1]. Cherubism isa genetic disorder of the jaw characterized by bilateral,symmetrical enlargement of the mandible or maxillaresulting from rapid bone degradation followed byextensive bone remodeling with multilocular benigncysts. The facial appearance by the upwardly turningeyes and swollen cheeks have been described asresembling the faces of cherubs found in Renaissanceart [2, 3]. Typical age of onset is 2 to 5 years, with thejaw lesions progressing gradually until puberty whenthe swelling spontaneously stabilizes and then itregresses. The variable cherubism phenotype can rangefrom absence of any clinical features to severemandibular and maxillary over growth causingrespiratory, vision, speech and swallowing problems.Radiographic changes can last up to the fourth decade.This disease usually affects the maxillofacial region andonly rarely it may affect ribs and other long bones. It hasa characteristic histopathological appearance [4, 5].

CASE REPORT OPEN ACCESS

Priya Singh1 , Abhinav Singh2, M Srinivasa Raju3

Affi l iations: 1BDS, MDS, Senior Lecturer, Department of OralMedicine & Radiology, Saraswati Dental College andHospital, Lucknow (UP), India; 2BDS, MDS, Senior Lecturer,Department of Conservative & Endodontics, SaraswatiDental College and Hospital, Lucknow (UP), India; 3BDS,MDS, Professor & HOD, Department of Oral Medicine &Radiology, Saraswati Dental College and Hospital, Lucknow(UP) India.Corresponding Author: Dr. Priya Singh, C-31 9, Nirala Nagar,Lucknow (U.P.) Pin – 226020, India; Mob: +91 9473871 737,Landline No: 0522-2788280; Email : priyaz1 4@yahoo.com

Received: 01 September 201 2Accepted: 20 October 201 2Published: 01 May 201 3

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CASE REPORTA 12­year­old male patient reported to thedepartment of Oral Medicine and Radiology with acomplaint of bilateral swelling of face and a protrudingmass. The patient reported that before the age of fiveyears he had normal facial features and no physicalabnormality was present. From the age of seven yearsthe patient noticed a swelling appearing on both sides ofthe face and he started looking different from otherchildren in his locality. The swelling gradually increasedin size. The concerned parents took him to a generalphysician, who diagnosed it as hyperparathyroidism.Since even after six months of medical treatment noregression of swelling was seen, the patient stoppedtaking medication for hyperparathyroidism. The familyhistory revealed that none of his parents had anyhistory of swelling of the face in their childhood.On extraoral examination, patient's face had severebilateral expansion with upturned eyes (Figure 1). Theswelling was bony hard in consistency with obliterationof the vestibular depth. Bilateral submandibular lymphnodes were enlarged. On general physical examinationno significant abnormality was detected. Intraoralexamination showed that left upper and lower canineregion had an exophytic growth. The growth was ovoid,bright red in color measuring about 1.5x1 cm in size.The growths were non­tender, clearly defined, sessilewith a smooth surface. The lesion was firm with absenceof any pulsation and fluctuation (Figure 2). Dentalocclusal and panoramic, PA mandible, hand­wrist andlong bone radiographs were advised in the patient.Mandibular topographic occlusal radiograph showedbilateral multilocular lesions, multiple impacted teeth,expansion of buccal cortical plates and thinning ofbuccal and lingual cortices (Figure 3). Panoramic andPA mandible radiographs too showed multilocularlesions present bilaterally in the mandible causingextensive destruction of body of mandible and ramusbone along with multiple impacted teeth.(Figures 4, 5). The radiographic features of multilocularradiolucency with floating teeth and multiple retaineddeciduous teeth were present. Hand­wrist and longbone radiographs did not show any abnormality(Figures 6, 7). All laboratory investigations includingimmunoassay for parathyroid hormone were found tobe within normal limits. Since the previous diagnosis ofhyperparathyroidism was incorrect, the patient wasasked to discontinue the medicinal treatment for thesame.Histopathological examination of tissue obtainedafter incisional biopsy from exophytic growth present inleft upper and lower canine region showed abundantplump fibroblast like cells with abundant multinucleatedgiant cells interspersed between them. Some areas oflocal hemorrhages were also noted within the looseconnective tissue along with large number of dilatedblood vessels (Figure 8). The histopathological featureswere suggestive of giant cell granuloma.

The clinical, radiological and histopathologicalfindings confirmed the diagnosis of cherubism. Afterdoing a detailed clinical review, it was decided that thepatient will be kept under observation till he attains theage of puberty. Surgery, if required, will be decided at alater date.

Figure 1: (A) Child at the age of two years, appears normal, (B)Child at the age of 3 ½ years, appears normal, (C) Child at theage of four and half years, appears normal, (D) Child at the ageof seven years, shows initial enlargement of jaw, (E) Child atthe age of 12 years showing bilateral swelling withcharacteristic, ‘Cherub Face’. (F) Clinical picture showingdevelopment of bilateral swelling in a 12­year­old child.

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DISCUSSIONJones et al. [1] first described familial occurrence ofpainless enlargement of the jaws in three siblings in the

Figure 2: (A) The left upper canine region showed an exophticgrowth, (B) The left lower canine region showed an exophticgrowth.

Figure 3: Topographic mandibular occlusal radiographshowing multilocular lesions bilaterally, buccal cortical plateexpansion along with thinning of buccal and lingual corticalplates.

Figure 4: Panoramic view showing multilocular lesion in themandible bilaterally, floating teeth and multiple impactedteeth.

Figure 5: Posteroanterior mandibular radiograph showingbilateral multilocular lesions.

Figure 6: Hand­wrist radiograph showing no abnormality.

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year 1933 and later coined the term “cherubism”. Thecherubs of Renaissance art showed similar full roundcheeks and the upward gaze of the eyes giving thechildren a peculiarly grotesque, cherubic appearance[1–3]. Cherubism is also called familial fibrousdysplasia of the jaws, but the recent genetic mapping

Figure 7: Long bone radiograph showing no abnormality.

Figure 8: Multilocular giant cells suggestive of cherubism(H&E stain, x400).

has shown it to be a separate entity at the molecularlevel [6]. The disease is a genetically mediated disorderwhich usually gets resolved after puberty. It is morecommon in males than females. It has a familialinheritance in approximately 80% cases with a variableexpressivity in both jaws. Classically the patient isnormal at birth; onset generally starts between 14months to five years of age, however in severe cases itmay be seen at the time of birth [7–9]. It keeps onprogressing until puberty but in some cases it mayresolve without any treatment. Typical features ofcherubism are bilateral, painless enlargement of cheeksand the jaws, loss of bone in the jaws and itsreplacement with large amount of fibrous tissue,fullness of the lower half of the face, retraction of thelower lids by the stretched skin over the cheeks becauseof which a line of sclera is exposed and the eyes appearto be raised to heaven. In severe cases it may alsoinclude the coronoid process and condyles. Mandible isusually involved and in 60% cases the maxilla may alsobe involved. There is premature loss of deciduous teethand displacement of permanent dentitions.Submandibular lymph node enlargement is seen in 45%cases. Rarely the lesion may extend up to the orbit withloss of eyesight due to optic nerve atrophy. Upper airwayinvolvement is rare. Displacement of tongue affectingthe speech, mastication and swallowing is also seen insome cases. Extremely rare extra­facial skeletalinvolvement can be seen affecting the upper humorous,anterior ribs and upper femoral necks. All the abovephysical and clinical alterations can lead topsychological impairment [10–18].Radiographically, cherubism is characterized bybilateral, expansive, multilocular, radiolucent lesionsclearly delimited by cortical bone in the mandible. Bonealterations generally start in the angle and ascendingramus of the mandible. The changes may extend toinvolve the mandibular body, displace the mandibularcanal and in some cases involve the coronoid process.Maxillary involvement is less frequent and less extensive[1, 3, 4, 10, 12, 15]. In severe cases infiltration of orbitalbone can occur leading to exacerbated exophthalmiawhich limits ocular movements. Hanging and floatingteeth along with multiple retained deciduous teeth arealso commonly seen. Different types of dentalabnormalities ranging from delayed eruption,displacement of teeth to root resorption are known tooccur [19–21].Arnott et al. [22] proposed a grading system forcherubism, according to lesion location and the degreeof expansion. Accordingly, grade 1 cases are limited toboth ascending rami of the mandible, grade 2 casesinvolve the maxillary tuberosities and mandibularascending rami and grade 3 cases correspond to massiveinvolvement of both jaws except the coronoid processesand condyles resulting in considerable facialdisfigurement. Ramon et al. [23] added grade 4 for caseswhere all of the classical features of the disorderexceeding grade 3 are present. The grade may changedepending on findings at the follow­up examination.According to this classical grading system our patient

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belongs to grade 1 cherubism in which lesion is limitedto both ascending rami of the mandible [21].Hematoxylin and eosin stained sections reveal highlycellular fibrovascular connective tissue. The cellularcomponent consisted of abundant plump fibroblast likecells with abundant multinucleated giant cellsinterspersed between them. Some areas of localhemorrhage was also present within the connectivetissues. Large number of dilated blood vessels werenoticed along with mixed type of inflammatorycomponents. The histopathologic features aresuggestive of giant cell granuloma [4, 8, 15, 16, 21, 24].Furthermore, there is a necessity to distinguishcherubism from central giant cell granuloma and giantcell tumors of the hyperparathyroidism with which itholds a false synonymity [5, 13, 14, 25].Mutations in the axon 9 of the SH3 domain bindingprotein 2 (SH3BP2) genes on Ch 4p band 16.3 havebeen identified in many families with cherubism. Non­familial cases may also be due to new mutations. Thesemutations lead to the development of multiple cysticgiant cell lesions in the jaw bones in early childhoodwith stabilization and resorption after puberty. Signalsunique to mandible and maxilla, triggered by theeruption of secondary teeth and transmitted throughoutthe extracellular matrix are thought to be responsiblefor the organ specific changes seen in cherubism. So far,no disease causing mutation outside axon 9 in theSH3BP2 gene has been identified, making it specific forthe diagnosis of the disease [25–27]. The treatment isbased on the known natural course of the disease andthe clinical behavior of the individual case. It rangesfrom masterly inactivity to recontouring for relievingcomplications and or cosmetic purposes. Therapy withcalcitonin has been said to reduce the need for surgeryby inducing bone resorption [28, 29].

CONCLUSIONIn conclusion, we report a rare case of cherubismshowing the classical clinical features, sequence ofprogression and radiographic presentations which arethe main characteristics of the disease.

*********Author ContributionsPriya Singh – Substantial contributions to conceptionand design, Acquisition of data, Drafting the article,Revising it critically for important intellectual content,Final approval of the version to be publishedAbhinav Singh – Substantial contributions toconception and design, Acquisition of data, Drafting thearticle, Revising it critically for important intellectualcontent, Final approval of the version to be publishedM Srinivasa Raju – Substantial contributions toconception and design, Acquisition of data, Drafting thearticle, Revising it critically for important intellectualcontent, Final approval of the version to be published

GuarantorThe corresponding author is the guarantor ofsubmission.Conflict of InterestAuthors declare no conflict of interest.Copyright© Priya Singh et al. 2013; This article is distributedunder the terms of Creative Commons Attribution 3.0License which permits unrestricted use, distribution andreproduction in any means provided the original authorsand original publisher are properly credited. (Please seewww.ijcasereportsandimages.com/copyright­policy.phpfor more information.)

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