UNIVERSIDADE ESTADUAL PAULISTA

“JÚLIO DE MESQUITA FILHO”

Instituto de Ciência e Tecnologia

Campus de São José dos Campos

CASE REPORT DOI: https://doi.org/10.4322/bds.2023.e3698

Braz Dent Sci 2023 Apr/Jun;26 (2): e3698

Cherubism in Saudi population: a rare case report

Querubismo na população Saudi: relato de um caso raro

Nezar BOREAK

, Bassam Ali HAMDI

, Nasser Ali KORERI

, Mazen Ahmed QADI

, Loay Ebrahim NAJMI

,

Faisal Hadi KHORMI



1 - Jazan University, Department of Restorative Dental Sciences. Jazan, Saudi Arabia.

2 - Jazan University, School of Dentistry. Jazan, Saudi Arabia.

How to cite: Boreak N, Hamdi BA, Koreri NA, Qadi MA, Najmi LE, Khormi FH. Cherubism in Saudi population: a rare case report. Braz

Dent Sci. 2023;26(2):e3698. https://doi.org/10.4322/bds.2023.e3698

ABSTRACT

Cherubism is a rare hereditary benign bro-osseous disorder characterised by bilateral swelling of the mandible

and/or maxilla with varying severity of involvement. It occurs because of dominant mutations in SH3BP2 gene

on the chromosome 4p16.3. On radiography cherubic lesions appear as multilocular cystic radiolucencies in the

jaw bones giving a soap bubble appearance. These lesions usually heal by themselves by the time the patient

attains puberty. Treatment is necessary only in aggressive cases where there is severe facial deformity or vital

functions are hampered. Surgical corrections are preferred when the lesion is in its dormant phase. The aim of the

present case report is to illustrate a case of cherubism in a 9-year-old Saudi boy which is a very rare occurrence

as only 1 case of cherubism has been reported so far in the Saudi Arabian population.

KEYWORDS

Cherubism; Genetic mutation; Multilocular cystic lesions; Self-regressive lesion; Calcitonin therapy.

RESUMO

Querubismo é uma desordem bro-óssea hereditária rara caracterizada por aumento de volume bilateral da

mandíbula e/ou maxila com graus variáveis de severidade. Ocorre devido a mutação dominante no gene SH3BP2

no cromossomo 4p16.3. Radiogracamente as lesões de querubismo aparecem como radiolucência multilocular

semelhantes a bolhas de sabão nos ossos maxilares. Geralmente as lesões involuem espontaneamente quando o

paciente atinge a puberdade. O tratamento se faz necessário apenas nos casos mais agressivos que demonstram

deformidade facial severa ou comprometimento de funções vitais. Correções cirúrgicas são preferíveis quando

a lesão está na fase dormente. O objetivo do presente relato é ilustrar um caso de querubismo em um paciente

de 9 anos da Arábia Saudita, sendo este um evento raríssimo com apenas um outro caso relatado na população

da Arábia Saudita.

PALAVRAS-CHAVE

Querubismo; Mutação genética; Lesão cística multilocular; Lesão com regressão espontânea; Terapia com

calcitonina.

Braz Dent Sci 2023 Apr/Jun;26 (2): e3698

Boreak N et al.

Cherubism in Saudi population: a rare case report

Boreak N et al.

Cherubism in Saudi population: a rare case report

INTRODUCTION

Cherubism, also called Multilocular Cystic

Disease of the jaws, is an uncommon inherited

bone condition occurring in paediatric patients of

age 2- 7 years and early teenagers and regresses

following puberty. Sir William Jones rst studied

it in 1933 in a family in which several members

were affected. He coined the term CHERUBISM,

which means children with “full round faces

gazing upwards to the sky”, describing the

affected patients’ appearance [1,2].

Cherubism occurs mainly due to mutation in

the SH3 - domain binding protein 2 (SH3BP2) on

chromosome 4p16.3, called autosomal dominant

cherubism [3-5]. According to the WHO, it is a

self-limiting ailment [6]. In cherubism, the normal

bone structure is substituted by proliferating

fibrous tissue consisting of many osteoclasts.

The resultant bony septae give the characteristic

multilocular appearance on radiographs [7].

It is a familial disease with a 100% penetrance

in males and a 50%–70% penetrance in females

for the autosomal dominant characteristic (2:1).

Although it was initially diagnosed as “familial

brous dysplasia of the jaws,” current genomic

studies have revealed that it is a distinct entity at

the molecular level [8,9]. Although cases without

a familial past have also been documented, most

cases exhibit a linked family history [10,11].

The diagnosis of cherubism is made using

histology and radiographic evidence though

biopsy and histopathologic examinations are not

an absolute necessity in most cases to conrm

the diagnosis of cherubism [12]. The clinical

ndings include Familial occurrence, bilateral

swelling of the mandible, high-arched palate, lack

of second and third molars, lymph node swelling,

self- resolution of the lesion after puberty [13].

Numerous dental alterations can be observed,

such as early primary tooth shedding, misplaced

permanent teeth, supernumerary teeth, irregular

eruption patterns, and root resorption [13,14].

Clinical signs such as painless lesions, increased

bone volume, and sporadic symptoms, including

tooth loss, slobbering, xerostomia, impacted

teeth, phonetic issues, and malocclusion,

impact the patients’ psychosocial well-being and

aesthetics [14]. In rare circumstances, airway

impairment is accompanied by vision and hearing

loss [15-17].

Many variations have been reported in

cherubism regarding the age of presentation,

clinical signs and symptoms, gender and familial

history. Motamedi and Raposo- Amaral suggested

a grading system to classify cherubism based on

the facial bones involved and other signs and

symptoms [18,19] (Figure 1). Though many

clinicians use this classification to define the

lesion and other signs, some clinicians don’t

Figure 1 - Classiﬁcation of Cherubism according to Motamedi (1998) and Raposo- Amaral (2007).

Braz Dent Sci 2023 Apr/Jun;26 (2): e3698

Boreak N et al.

Cherubism in Saudi population: a rare case report

Boreak N et al.

Cherubism in Saudi population: a rare case report

use the classication as the presentation of the

disease is unique in different patients.

Cherubism is a self-limiting disease that

degenerates extemporaneously after adolescence.

The radiolucent spaces are lled up with a sclerotic

bone. In rare cases, the radiolucent spaces may

remain, and surgical correction is necessary to

restore normal facial features [19,20].

The present case report aims to illustrate a

case of cherubism in the Saudi Arabian population

which is a very rare occurrence as only 1 case of

cherubism has been reported and published in

the population.

CASE PRESENTATION

In the present case, an 8 years 9 months old

male child reported to the dental clinics of Jizan

University for a routine dental check-up. During

the oral examination, it was detected that the

cheeks of the patient were abnormally swollen

and chubby (Figure 2). There was no history

of pain or fever or any associated symptoms.

The mother reported that the swelling was

present for 2 years with no obvious discomfort

to the patient.

When examined, the patient was noted

to have mixed dentition with exfoliating

primary teeth and erupting permanent teeth.

In addition, 75 was affected by dental caries, and

85 was missing due to extraction that was done

previously. Panorama and CBCT were advised

for further diagnosis.

The orthopantomogram (OPG) showed

multiple, symmetric radiolucent lesions in the

angle of the mandible, giving a typical soap

bubble appearance, a classical sign of cherubism

(Figure 3). In addition, these multilocular lesions

extended into the ramus and coronoid process

of the mandible, sparing the condylar process,

a pathognomonic sign of cherubism. In OPG,

maxillary involvement was not evident. Thus,

CBCT was done.

CBCT imaging showed the absence of a

significant part of the body of the mandible,

ramus of the mandible and the coronoid process

(Figures 4 and 5). The maxillary tuberosity

was involved, pushing the permanent teeth

buds mesially. No histopathological analysis

was undertaken for this case as the presenting

symptoms were not the chief complaint and it

would be an invasive procedure for the paediatric

patient.

Diagnosis of the present case was made

based on the age of the patient, presenting clinical

symptoms and radiological findings. Patient

was treated for dental caries with least surgical

intervention and patient was advised a long-term

follow- up.

DISCUSSION

Cherubism is a type of non-cancerous bone

disease that only affects the jaws. Additionally,

some publications refer to this condition as

Figure 2 - Facial Appearance of the patient.

Figure 3 - CBCT (Frontal View).

Braz Dent Sci 2023 Apr/Jun;26 (2): e3698

Boreak N et al.

Cherubism in Saudi population: a rare case report

Boreak N et al.

Cherubism in Saudi population: a rare case report

familial brous dysplasia, which is a member

of the family of brous osseous illnesses [6,7].

Cherubism is associated with mutations in

genes encoding the binding protein SH3BP2 on

chromosome 4p16.3 [21,22]. Mutation in this

binding protein causes dysregulation of the

Msx-1 gene which is implicated in the regulation

of mesenchymal collaboration in craniofacial

morphogenesis [22].

In cherubism, the affected child appears

normal at birth, but unilateral or bilateral painless

swelling occurs at the age of 14 months to

12 years on average. Frazier et al. [23] reported

a case of unilateral swelling of the maxilla and

mandible in an 8-year-old female patient. In the

present case, an 8-year-old boy was affected

by bilateral, painless swelling. This swelling

may continue to grow until puberty and later

undergo involution where the radiolucent space is

replaced with sclerotic bone [24]. By the 4

or 5

decade of life, normal facial features are naturally

restored. However, in extreme or severe cases

surgical corrections may become necessary [25].

Cherubism has been classied in the past

by Marck and Kudryk in 1992 into 4 grades

based on the bones involved and the symmetry

of the lesion [26]. In 2007, Motamedi and

Raposo- Amaral suggested a system of grades

to classify cherubism based on the facial bones

involved and other signs and symptoms [18,19].

This classification was more widely accepted

as it describes the disease in terms of grade,

class and sub-class (Figure 1). According to this

classication, our case could be categorized into

the grade 2 class1 category.

In the present case, OPG was taken to rule

out swelling due to dental infection. The mother

of the patient mentioned that the swelling was

present for 2 years. In OPG, bilateral, multilocular

radiolucencies were observed in the ramus of the

mandible involving the coronoid process however

preserving the condyles. This observation is a

pathognomonic sign of cherubism [27]. But this

was not found to be the case as Bianchi et al.

reported a case of cherubism with condylar

involvement [28]. The roots of primary and

permanent teeth were found to be intact, and

no signs of resorption were observed. These OPG

observations were found to be similar to a case

reported by Shakeel et al. [29] To conrm the

involvement of maxilla, CBCT was advised for the

patient. In CBCT, it was seen that the maxillary

Figuere 4 - CBCT image (Lateral View).

Figure 5 - OPG of the Patient.

Braz Dent Sci 2023 Apr/Jun;26 (2): e3698

Boreak N et al.

Cherubism in Saudi population: a rare case report

Boreak N et al.

Cherubism in Saudi population: a rare case report

tuberosity was involved in displacing the primary

and permanent teeth anteriorly. The base of the

skull was observed to be intact. No resorption of

the roots of permanent teeth was observed.

The radiographic differential diagnosis

for cherubism comprises of brown tumour

of hyperparathyroidism, craniofacial fibrous

dysplasia, Gigantiform cementoma and Jaffe-

Campanacci syndrome. Even though lesions of

cherubism and craniofacial fibrous dysplasia

display similar radiologic features, they can be

differentiated based on clinical and histological

ndings [30]. Signs and symptoms more explicitly

found in cherubism are bilateral swellings of the

mandible, the lesion involving the maxilla and

mandible, and self-regression of the lesions by

adolescence [31,32]. Whereas patients suffering

from brous dysplasia classically do not present

with swelling of cheeks and eyes turning upwards,

or displacement of teeth. Cherubism is reported

to be associated with various other syndromes

such as Noonan’s syndrome, neurobromatosis

type 1, fragile X syndrome and Ramon’s syndrome.

Biopsy and histopathological examination are

not absolute necessarity in cases of cherubism

because histologically we can see many randomly

dispersed multinucleated giant cells and vascular

spaces in the connective tissue stroma which is

a similar nding in hyperthyroidism and Central

giant cell granuloma, making it nearly impossible

to differentiate between the disorders [12,33].

Yet, in some reports biopsies have been performed

in order to address the chief complaint of the

patient [34].

Cherubism is a self-regressing disease which

resolves by puberty. Treatment is necessary only

in cases where esthetics and mastication, and

deglutition are compromised. It is preferred

by physicians and surgeons to wait till puberty

before opting for a treatment plan [35]. Surgical

correction is done in aggressive forms of cherubism

where ocular disturbances and problems with

breathing or deglutition are reported. If surgery

is done in the active phase of the lesion, there

is a higher chance of relapse, and the disease

may exacerbate [36]. Calcitonin therapy has

been reported to be successful in reducing the

resorption of bone and reducing the maxillary

and mandibular cystic lesions [37]. In the present

case, no treatment was advised for the swelling

of the jaw. Dental caries with primary molars

was restored with the least surgical intervention.

The patient has been placed under observation

and is recalled at an interval of 6 months for

examination.

CONCLUSION

There are no pathognomonic features of

cherubism as every case presents with diverse

signs and symptoms. The diagnosis of cherubism

can be done by considering the clinical features,

radiological features and histological features.

Though histological features are inconclusive and

do not signicantly contribute to the diagnosis.

Genetic testing can be a more advanced diagnostic

tool in the case of cherubism.

Author’s Contributions

NB: Corresponding author. BAH, NAK, MAQ,

LEN, FHK: Co-author.

Conict of Interest

There is no conict of interest.

Funding

Nil.

Regulatory Statement

This case report was prepared in accordance

with all the provisions of the local human subjects

oversight committee guidelines and policies of:

Ethics Committee of Scientic Research at Faculty

of Dentistry.

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Braz Dent Sci 2023 Apr/Jun;26 (2): e3698

Boreak N et al.

Cherubism in Saudi population: a rare case report

Boreak N et al.

Cherubism in Saudi population: a rare case report

Date submitted: 2022 Nov 16

Accept submission: 2023 Feb 03

Nezar Boreak

(Corresponding address)

Jazan University, Department of Restorative Dental Sciences, Jazan, Saudi Arabia

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