62 Case report

Cherubism: a case report and review of literature

Ahmed F. Al-Omara, Basma G. Moussaa and
Usama Abd El Raouf M. El-Dakroryb

Cherubism is a rare hereditary fibro-osseous lesion Egyptian Journal of Oral & Maxillofacial Surgery 2015, 6:62–65
characterized by painless expansion of jaws during Keywords: autosomal dominant, cherubism, familial, fibro-osseous,
childhood and is known to regress without treatment after hereditary
puberty. Cherubism is a familial disease and presents an a
Department of Oral and Maxillofacial Surgery, Faculty of Oral and Dental
autosomal dominant trait, with 100% in the male Medicine, Cairo University and bDepartment of Oral and Maxillofacial Surgery,
population and 50–70% in the female population. Faculty of Oral and Dental Medicine, Misr University for Science and Technology,
Giza, Egypt
Cherubism is not a common disease. Recent genetic
studies have revealed that cherubism is a genetically Correspondence to Ahmed F. Al-Omar, PhD, Department of Oral and Maxillofacial
Surgery, Faculty of Oral and Dental Medicine, Cairo University, Giza, Egypt
mediated disorder. Usually cherubism appears between 2 E-mail: ahmed_alomar@hotmail.com
and 5 years of age. We present a case report of familial
Received 10 December 2014 accepted 8 March 2015
cherubism in a 20-year-old female patient. Egypt J Oral
Maxillofac Surg 6:62–65 c 2015 The Egyptian Association
of Oral & Maxillofacial Surgeons.

Introduction and review 20-year-old female patient with swelling on both sides of
Cherubism, or familial intraosseous fibrous expansion of the lower and upper jaw (grade 3).
the mandible, is a disease characterized by the presence of
giant cells and fibrous tissue proliferation. Cherubism was Case report
first described by Jones [1] and was referred to as familial A 20-year-old female patient presented to the Oral and
multilocular cystic disease of the mandible [2]. This Maxillofacial Surgery Department, Faculty of Oral and
disease is usually manifested in the maxillofacial region Dental Medicine, Cairo University, with bilateral swel-
only, and rarely it may affect ribs and other long bones [1]. lings in the body of the mandible and bilateral bony
enlargement in the body of the maxilla without any pain.
Cherubism is a benign, self-limiting fibro-osseous disorder History revealed that it started as a small swelling during
characterized by bilateral expansion of the mandible, the childhood and progressively increased in size, and then
maxilla, or both. The lesions are usually symmetrical and remained a stabilized lesion without further increase. An
painless [3]. The condition is usually observed in patients extraoral clinical examination showed a swelling of the
between 2 and 5 years of age. The word ‘cherubism’ refers mandible bilaterally, roughly oval in shape, hard in
to the spherical facial appearance of angels painted during consistency with well-defined margins and associated
the Renaissance era. Cherubism received its name thickening of the inferior border anteriorly and posteriorly
because of an angel-like appearance of the patients (Fig. 1a and b).
(chubby and upward-directed look). The characteristic
spherical and symmetrical chubby facial appearance Swelling on the left side was slightly larger compared with
observed in cherubism is diagnostic of the condi- the lower border of the mandible. On palpation, tempera-
tion [1,2,4,5]. Although cherubism appears to be inherited ture of the overlying skin was normal and no tenderness
as an autosomal dominant trait, with 70% in the female elicited on palpation. Intraorally, there was a visible swelling
population and 90% in the male population, other patterns present buccally and lingually with few teeth missing.
of inheritance and association with syndromes have been An orthopantomograph, computed tomography, and 3D
reported [6–8]. Around puberty, the condition begins to computed tomographic view radiograph of the patient
regress until 30 years of age, when lesions frequently are showed multilocular radiolucency appearance of the jaws,
not detectable. The literature shows that the lesion tends with numerous unerupted and displaced teeth appearing
to occur twice as often in the mandible than in the to be floating in cyst-like spaces (Fig. 2a and b).
maxilla [9–11]. Orbital involvements in cherubism may
develop beyond puberty after stabilization or regression of Histopathological examination revealed the presence of
the lesion of the jaws. Patients with cherubism should be granulation tissue with vasodilated blood capillaries, around
routinely evaluated by an ophthalmologist. Ramon and which numerous multinucleated giant cells were present
Engelberg [12] proposed a grading system for cherubism: (Fig. 3). Correlating clinical, radiological, and histological
grade 1, involvement of both mandibular ascending rami; findings, the final diagnosis of cherubism was established.
grade 2, same as grade 1 plus involvement of both Postsurgical clinical and orthopantomographic evaluation
maxillary tuberosities; grade 3, massive involvement of the shows re-establishment of normal bone contour.
whole maxilla and mandible, except the condylar pro-
cesses; and grade 4, same as grade 3 with involvement of Discussion
the floor of the orbits causing orbital compression [12]. Cherubism is a rare hereditary fibro-osseous childhood
The authors in this article present a case report of a disease characterized by bone degradation and fibrous

2090-097X
c 2015 The Egyptian Association of Oral & Maxillofacial Surgeons DOI: 10.1097/01.OMX.0000462787.66530.51
Copyright © Egyptian Journal of Oral & Maxillofacial Surgery. Unauthorized reproduction of this article is prohibited.
 Cherubism: a case report Al-Omar et al. 63

Fig. 1

(a, b) Extraoral profile showing the bilateral enlargement of the body and ramus of the mandible.

Fig. 2

(a) Orthopantomogram view reveals multilocular appearance of the jaws with numerous unerupted and displaced teeth and bilateral bone
enlargement in the body of the maxilla. (b) Anterior view of a 3D image shows the large mandibular body deformity with anterioinferior extension and
proliferation of the lesions involving the whole maxilla to the deep regions of the face.

tissue replacement at the angles of the mandible and the non-neoplastic bone lesions that affect only the jaws [13].
tuberosities of the maxilla that leads to prominence of the Anderson and McCleden reviewed 65 cases from 21
lower face. The disorder was first described in 1933 by families and suggested that the pattern of inheritance
Jones [1] as a familial fibro-osseous disease involving was autosomal dominant [14]. Patients typically present
the maxilla and the mandible [1]. According to the with a painless symmetric enlargement of the posterior
WHO classification, cherubism belongs to a group of region of the mandible, which achieves considerable size

Copyright © Egyptian Journal of Oral & Maxillofacial Surgery. Unauthorized reproduction of this article is prohibited.
 64 Egyptian Journal of Oral & Maxillofacial Surgery 2015, Vol 6 No 2

Fig. 3 predominance of inflammatory activity; and III, predomi-

nance of fibrosis. As the patient grows, the jaw bone tends to
resolve and progressively result in a normal jaw configura-
tion [20]. In addition, several authors have reported that
despite being a self-limiting condition that subsides with
age, it can cause serious orbital abnormalities and impair-
ment of hearing [15]. Being a self-limiting condition,
treatment is mainly for the esthetic needs and for unerupted
teeth. Liposuction has been proposed to reduce the mass of
the lesion in particular cases [3]. Curettage alone, or in
combination with surgical contouring, has been considered
the treatment of choice and some authors have reported a
massive growth of the lesion after surgery. Some authors
point medical therapy in the form of calcitonin as a
possibility to curtail the disease and obviate the need for
surgery [20].

Conclusion
Histopathological picture showing the multinucleated giant cell. Cherubism is a rare benign bone disease with autosomal
dominant inheritance. The signs and symptoms depend
on the severity of condition and range from no clinically
before it is detected, and it can produce severe facial or radiographically detectable features to deforming the
deformity [15]. mandible or the maxilla with respiratory embarrassment
and impaired vision and hearing. Cherubism is a clinically
The first signs of manifestation of the disease are generally
well-characterized disease presenting bilateral expansion
observed at about 2 years of age, followed by accelerated
of the jaw. Clinical presentation along with the radio-
growth from 8 to 9 years and spontaneous interruption after
graphic examination leads to the diagnosis. Histopatho-
puberty. The clinical appearance may vary from a barely
logical examination is complementary. Nowadays, genetic
discernible posterior [16] swelling of a single jaw to a
tests should be used for the final diagnosis of cherubism.
marked anterior and posterior expansion of both the jaws,
Being a self-regressing condition, generally, minimally
resulting in masticatory, speech, and swallowing difficulties.
invasive treatment is performed; however, sometimes
Intraorally, it presents as a hard, nontender swelling
surgical management is required for cosmetic reasons.
palpable in the affected area. Submandibular and upper
cervical lymphadenopathy are common, although reactive
regional lymphadenopathy, particularly of the submandib- Acknowledgements
Conflicts of interest
ular lymph nodes, usually subsides after 5 years of age.
Cherubism is reported to be associated with some well- There are no conflicts of interest.
described syndromes, including Neurofi bromatosis type 1,
Noonan-like/multiple giant cell lesion syndrome, Ramon References
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