|Year : 2014 | Volume
| Issue : 4 | Page : 458-462
Cherubism: Report of a regressed nonfamilial grade 1 case
Mysore K Sunil, Ashwarya Trivedi, Aarti Trakroo, Neetu Singla
Department of Oral Medicine and Radiology, Guru Nanak Dev Dental College and Research Institute, Sunam, Punjab, India
|Date of Submission||26-Jun-2014|
|Date of Acceptance||09-Mar-2015|
|Date of Web Publication||22-Apr-2015|
Guru Nanak Dev Dental College and Research Institute, Bathinda-Patiala Road, Sunam - 148 028, Punjab
Source of Support: None, Conflict of Interest: None
| Abstract|| |
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. Major complications may occur along with the presence of facial deformities. The facial deformities may frequently be associated with dental malformations. 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. Following this, the lesions frequently become undetectable clinically, due to which, many affected adults have a normal facial appearance. Here, we report a case of a 22-year-old female patient suffering from cherub-like appearance with regressed features.
Keywords: Bilateral, cherubism, familial multilocular disease of the jaws, jaw tumors, mandible, multilocular disease of jaws
|How to cite this article:|
Sunil MK, Trivedi A, Trakroo A, Singla N. Cherubism: Report of a regressed nonfamilial grade 1 case. J Indian Acad Oral Med Radiol 2014;26:458-62
|How to cite this URL:|
Sunil MK, Trivedi A, Trakroo A, Singla N. Cherubism: Report of a regressed nonfamilial grade 1 case. J Indian Acad Oral Med Radiol [serial online] 2014 [cited 2019 Nov 17];26:458-62. Available from: http://www.jiaomr.in/text.asp?2014/26/4/458/155667
| Introduction|| |
Cherubism, was first coined and documented in 1933 by Dr. W.A. Jones. He described it as a "familial multilocular disease of the jaws," in three siblings, "resembling the faces of cherubs in renaissance art."  Online Mendelian Inheritance in Man (OMIM) has listed it as OMIM 118400, a rare genetic disease of autosomal dominant inheritance with variable penetrance and expressivity, characterized by an abnormal growth of the bones of the face, mainly involving the jaws.  Clinically there is a painless enlargement of the lower half of the face bilaterally, which is self-limiting, frequently presenting with dental manifestations. , The symmetric fibro-osseous lesions are usually limited to the mandible and maxilla. Although the affected children appear normal at birth, the bilateral swelling of the jaws usually appear 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. Following this, the lesions frequently become undetectable clinically, due to which, many affected adults have a normal facial appearance. 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, radiographical, and histopathological features observed.
| Case Report|| |
A 22-year-old female patient reported to the department with a complaint of bleeding gums in the lower front teeth region while brushing since 2-3 months. Patient gave a history of bleeding gums while brushing, which stopped after a few seconds on its own. There was no history of trauma, pain, swelling, pus discharge, fever, paresthesia, anorexia, and weight loss. Patient was moderately built with a cherubic facial appearance [Figure 1]. On extraoral examination, no other abnormalities were detected. Regional lymph nodes were not palpable.
On intraoral examination [Figure 2], partially erupted 38, clinically missing 37, grade I mobility of 35 and 36, grade II mobility of 31, 32, 41, and 42, crowding in the lower anterior teeth, buccally erupted 48, and normal occlusion were observed. Generalized stains and calculus were present. Soft tissue examination revealed that the gingiva in the lower anterior teeth region was reddish pink in color, soft, and edematous in consistency with loss of normal contour and shape, and bleeding on probing. Further, there was obliteration of the buccal vestibule of the left lower teeth extending from 35 posteriorly upto the retromolar region. A similar vestibular obliteration was appreciated in the right lower posterior region. On palpation, expansion of the buccal cortical plate was appreciated in the right and left lower posterior region corresponding to 45, 46, 47 and 35, 36, 37 regions, respectively. The expansion was non-tender and bony hard in consistency with no discharge present.
|Figure 2: Intraoral view showing obliteration of the buccal vestibule on the right and left sides of the lower jaw|
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Based on the history and clinical examination, provisional diagnosis of (a) localized periodontitis in 31, 32, 41, and 42, and (b) dentigerous cyst was made. Odontogenic keratocyst, hyperparathyroidism, ameloblastoma, and cherubism were considered under the differential diagnosis.
Patient underwent a complete hemogram, which was normal except for a raised ESR. Additional serological investigations, namely, serum calcium, serum phosphate, serum alkaline phosphatase, serum glutamic oxaloacetic transaminase (SGOT), serum glutamate-pyruvate transaminase (SGPT), human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV) were all normal.
The radiographic evaluation comprised intraoral periapical (IOPA) radiographs, mandibular cross-sectional view, orthopantomography (OPG), and computed tomography (CT). The IOPA radiograph of 36, 37, and 38 region [Figure 3]a revealed a mixed radiolucency which extended from 36 posteriorly upto 2 cm with a tooth-like radiopaque structure embedded in between 36 and 38, suggestive of an impacted 37. There was loss of lamina dura and loss of normal trabecular pattern in the distal aspect of 36. The IOPA radiograph of 46, 47, and 48 region revealed a mixed radiolucency starting from 45 and extending posteriorly with resorption of the roots of 48. The radiolucency was non-homogenous with loss of normal trabecular pattern [Figure 3]b. The mandibular cross-sectional occlusal view revealed buccolingual cortical expansion.
|Figure 3: IOPA radiograph of (a) 36, 37 and 38 region showing impacted 37, and (b) 46, 47 and 48 region showing resorption of the roots of 48|
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The OPG [Figure 4] revealed bilateral multilocular expansile radiolucencies involving the molar region, angle and ascending ramus region, starting anteriorly from the premolar region and extending posteriorly upto the ramus and 1-cm inferior to the 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 between 36 and 38, suggestive of an impacted 37. There was a bilateral downward displacement of the inferior alveolar canal, resorption of the root of molars and a displacement of the involved teeth.
|Figure 4: OPG showing bilateral multilocular expansile radiolucencies involving the molar region, angle and ascending ramus region|
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The CT scan [Figure 5]a and b of the mandible revealed expansion of both rami of the mandible including the angle and the body. Expansile lytic masses showing soap bubble appearance was present on both the sides. The cortex of the mandible was intact but thinned out. A radiographical differential diagnosis of odontogenic keratocyst, giant cell lesion of hyperparathyroidism, cherubism, odontogenic myxoma, and ameloblastoma was made.
|Figure 5: (a) Axial and (b) coronal CT views showing expansion of both rami of the mandible|
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The fine needle aspiration cytology (FNAC) revealed no significant findings. Incisional biopsy was done bilaterally from the body of mandible. Hematoxylin and eosin (H & E)-stained section at 40X revealed a highly cellular lesion composed of loose fibrous stroma interspersed with multinucleated giant cells, blood vessels, scattered sparse mononuclear inflammatory infiltrate with foci of osteoid metalplasia [Figure 6].
|Figure 6: Histopathological picture showing highly cellular lesion composed of loose fibrous stroma with osteoid|
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Clinical, hematological, histopathological, and radiological diagnosis confirmed a final diagnosis of cherubism. After a delineated clinical review, it was decided that the patient be kept under observation and follow-up every 6 months. Patient underwent oral prophylaxis for her chief complaint.
| Discussion|| |
Cherubism is a non-neoplastic progressive heredity disease affecting the jaw bones. The exact etiology is unknown, but various studies suggest that cherubism is a hereditary condition, transmitted with an autosomal dominant pattern with 70% occurrence in females and 90% in males. The dysregulation of the Msx-1 gene, which is involved in regulating the mesenchymal interaction in craniofacial morphogenesis, is caused due to SH3BP2 gene mutations. Dysfunction of Msx-1 stops at the end of molar development, leading to remineralization of the lesions. In the present case the histological appearance of metaplastic bone indicates the remineralization of the lesions, which supports the above theory. ,, Literature has reported many isolated non-familial cases of cherubism. The present case too lacked a familial history.
Cherubism is a benign disease which presents clinically as a painless enlargement of the lower half of the face causing upward turning of the eyes ("upward-to-heaven-looking eyes") with exposure of the sclera inferior to the iris or protosis. It starts approximately at the age of 3 or 4 years and continues through to adolescence. The growth stops at the end of adolescence when these lesions regress around the age of 20 years and the residual lesions then become non-recognizable. , In the present case too, the patient was aged 22 years with disappearance of the typical features of cherubism. It usually not only presents as a massive deformity of the jaws, but also causes respiratory difficulty with the involvement of the maxilla. The most commonly affected sites are the mandibular angle, ascending ramus, retromolar region, and posterior maxilla. Although, the coronoid processes may be involved, the condyles are always spared. During the early stages of cherubism, the submandibular and cervical lymph nodes are enlarged. , Raposo-Amaral et al., in 2007, supported the odontogenic origin of cherubism and suggested that condyles and zygomatic arches are not affected because tooth buds do not develop in these skeletal segments. , The dental findings include a premature exfoliation of the primary teeth and defective permanent dentition with absence of numerous teeth, displacement of tooth follicles and non-eruption 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 mandibular ramus sparing the condyles and coronoid processes with the presence of an unerupted tooth (37). The rest of the skeleton and serological markers were normal. A grading system for cherubism was given by Seward and Hankey , in 1957 [Table 1]. The present case falls into grade 1, since only the body of the mandible and rami were involved.
|Table 1: Grading system for cherubism given by Seward and Hankey[4,8] (1957)|
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The mandibular angle shows the first radiographic signs of cherubism. The mandible and less often, the maxilla, show multilocular cystic radiolucencies with expansion and thinning of the cortical plate and displacement of the inferior alveolar canal. The teeth appear as if floating in the cystic spaces. There is early exfoliation of the primary teeth due to acceleration of the physiologic resorption of the primary roots. Impaction of some of the permanent teeth may occur due to the ectopic eruption of the adjacent teeth. ,, The present case demonstrated bilateral multilocular radiolucencies involving the body of the mandible and rami.
Syndromes related to cherubism
Ramon syndrome (short stature, mental retardation and gingival fibromatosis) and Noonan syndrome (dysmorphic features, developmental delay, short stature, mild mental retardation, cardiac anomaly, pulmonary stenosis, cryptorchidism in males, and giant cell lesions of bones and soft tissues) are associated with cherubism. ,, The present case did not show any of the features of these syndromes.
The lesion consists of vascular fibrous tissue with variable numbers of multinucleated giant cells, 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.
In most of the cases, no active treatment is required. The universal 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 in most of the cases. Literature supports medical therapy like Calcitonin which is, however, under various clinical trials. Kuruvilla et al. have stated that as the disease is caused due to genetic mutations, gene therapy has a promising role in the treatment. ,, As the present case demonstrated the regressed form of cherubism, we followed a conservative approach for the treatment.
| Conclusion|| |
A case of regressed form of grade 1 cherubism, is discussed along with the various clinical, radiographical and histopathological features.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]