|Year : 2017 | Volume
| Issue : 2 | Page : 82-84
Anjum Farooqui1, Yogita Khalekar2, Jamebashher Farooqui3, Amit Zope4
1 Department of Oral Medicine and Radiology, Rural Dental College, Loni, Ghaziabad, India
2 Department of Oral Medicine and Radiology, ACPM Dental College, Dhule, Maharashtra, India
3 Department of Forensic Medicine, Rural Medical College, Loni, Ghaziabad, India
4 Department of Orthodontics and Dentofacial Orthopaedics, ACPM Dental College, Dhule, Maharashtra, India
|Date of Web Publication||8-Jun-2017|
Department of Oral Medicine and Radiology, ACPM Dental College, Dhule, Maharashtra
Cherubism is a rare non-neoplastic fibro-osseous disorder characterized by clinically evident bilateral painless enlargement of the jaws that usually gives a cherubic appearance. Cherubism is due to dominant mutations in the SH3-binding protein 2 (SH3BP2) gene on chromosome 4p16.3.The skeletal deformity causes dental complications. Bilateral swelling of the jaws usually appears between the age of 2 and 7 years, after which, the lesions proliferate and increase in size until puberty. These lesions subsequently begin to regress, fill with bone and remodel until the age of 30 years. Here we present a case of 20 years male patient with cherubism.
Keywords: Cherubism, chromosome, dominant, mutations
|How to cite this article:|
Farooqui A, Khalekar Y, Farooqui J, Zope A. Cherubism. SRM J Res Dent Sci 2017;8:82-4
| Introduction|| |
The term “cherubism” was first coined by Dr. W. A. Jones in 1933. He described it as a “familial multilocular disease of the jaws,” in three siblings, “resembling the faces of cherubs in renaissance art.” The affected mandible and sometimes the maxilla begin to swell in early childhood and this gradually increases until puberty. Cherubism is due to dominant mutations in the SH3-binding protein 2 (SH3BP2) gene on chromosome 4p16.3. This article presents a bilateral presentation of a case of cherubism including the various clinical and radiographical features observed.
| Case Report|| |
A 22-year-old male patient reported with a chief complaint of malaligned teeth. On clinical examination, the patient had facial asymmetry with the “cherub” appearance of face. Eyes also showed the asymmetry. The left eye was smaller as compared to the right eye, and both eyes had “eyes raised to heaven appearance” [Figure 1]. Intraoral examination revealed missing 15, 17, 25, 27, 45, 46, 47, 36, 37, over retained 53, severe malocclusion having complete deep bite and crossbite with canine [Figure 2]. The patient gave history of progressive painless swelling of lower jaw during his childhood which slowed down slowly with age and there was no recent history of progression of swelling. There was no family history of the similar condition.
|Figure 1: Extraoral examination showing tell-tale sign of cherubism “eyes raise to heaven” appearance|
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The orthopantomogram revealed bilateral multilocular expansile radiolucencies involving complete mandible and coronoid process. Superoinferiorly, it extended from the alveolar crest to the lower border and angle of mandible. Periphery was well defined and delineated by a cortical border. The internal structure was mixed in appearance with bony septae which were curved and coarse in nature. A radiopaque structure with tooth-like appearance was present embedded suggestive of an impacted 36, 45, 46, and 47. There was a bilateral downward displacement of the inferior alveolar canal along with the involved teeth. Maxillary arch also revealed impacted 18 over retained 53 [Figure 3].
Maxillary occlusal radiographs showed asymmetry with the unilateral expansion on the right side [Figure 4]. Mandibular occlusal radiograph showed bilateral expansion of buccal as well as lingual cortical plates. Multilocular radiolucencies with multiple coarse radio-opaque septae [Figure 5].
The patient underwent a complete hemogram, which was normal. Additional serological investigations, namely, serum calcium, serum phosphate, and serum alkaline phosphatase, were also normal.
On the basis of history, features and radiographic and blood investigations, the case was diagnosed as cherubism. The patient was advised surgical and prosthetic treatment, but he refused them.
| Discussion|| |
Cherubism is a nonneoplastic progressive hereditary disease affecting the jaw bones. The exact etiology is unknown, but various studies suggest that cherubism is a hereditary condition, transmitted as an autosomal dominant trait with 70% occurrence in females and 90% in males. Mutation in the gene encoding SH3BP2 and possible degradation of the Msx-1 gene is considered as the molecular pathogenesis for cherubism. There are many nonfamilial cases of cherubism reported in literature. Our case also lacks positive familial history.
In cherubism, there is a painless enlargement of the lower half of the face which causes upward turning of the eyes, giving a “eyes looking to heaven” appearance. It is a tale-tell sign of cherubism. It initiates at the age of 3 or 4 years and continues through to adolescence. Progression of the growth stops, and the lesions regress around the age of 20 years.
In our case also, the patient was aged 22 years with arrested growth of swelling.
Mandibular angle, ascending ramus, retromolar region, and posterior maxilla are the most commonly affected sites. The condyles are always spared. In 2007, Trivedi et al., proposed the odontogenic origin of cherubism. They suggested that condyles and zygomatic arches are not affected because tooth buds do not develop in these skeletal segments.
The common dental findings in cherubism are a premature exfoliation of the primary teeth and defective permanent dentition with absence of numerous teeth, displacement of tooth follicles, and noneruption of those present. The rest of the skeleton is not affected, and markers of bone remodeling are within the normal range.
The present case showed an involvement of the mandible bilaterally, sparing the condyles with the presence of multiple impacted teeth. The rest of the skeleton and serological markers were normal.
A grading system based on radiology for cherubism was given by Seward and Hankey  in 1957 [Table 1]. The present case falls into Grade I.
Radiologically, there is bilateral multilocular cystic expansion of the jaws which reossify later, resulting in irregular patchy sclerosis. The presence of numerous unerrupted teeth and displaced teeth with the destruction of the underlying alveolar bone produces “floating tooth appearance.”
The lesion consists of vascular fibrous tissue with variable numbers of multinucleated giant cells and eosinophilic cuff-like deposits surrounding the small blood vessels. Because of the similarity with other giant cell lesions of bone, cherubism cannot be diagnosed by histology alone and requires clinical and radiological correlation.
Overall cherubism has a good prognosis. Progression of cherubism stops after puberty, and as the patient grows, the entire jawbone lesion tends to develop a more normal configuration. The usual treatment approach would be to wait for natural involution to take place or defer surgeries until after puberty. After skeletal growth is completed, extraction of teeth in the involved area and surgical contouring can be carried out. Radiation therapy is contraindicated. As the present case demonstrated the regressed form of cherubism, we advised surgical recontouring followed by prosthetic rehabilitation.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]