Cherubism in a 12-year old Child; A Rare Case Report

Introduction Cherubism is a benignbony lesion. It is a painless, self-limiting fibro-osseous lesion characterised by bilateral symmetric expansion of jaws that occurs between the ages two to five years. Although it is a familial disease and presents as autosomal dominant trait, many solitary cases have been reported in literature. Males are commonly affected (2:1) and with greater severity. Cherubism is usually seen in the maxillofacial region and rarely it might affect ribs and other long bones.1 The typical dento-facial lesions of cherubism are due to mutations in the gene called SH3BP2 (for SH3 domain bind protein-2) on chromosome band 4p16.3.2,3 Cherubismusually will not progress after puberty, and as the child grows to adulthood, all the jawbone lesions tends to develop a normal configuration. Hence, surgical treatment is not advised.4 Case report A 12-year old male child patient was brought to the department of pediatric dentistry with a chief complaint of gradual overgrowth of right and left cheeks since five years (Fig-1). History revealed that the lesion started as a small swelling during childhood and progressively increased in size, and then remained as stable. Family history suggested that his father had similarkind of swelling (Fig-2) in childhood which gradually regressed after puberty. The child patient was moderately built, active and alert. Extra-oral examination showed bilaterally symmetrical, diffused,swelling of the face, with marked increase in fullness of cheeks and jaws. It was due to enlargement and expansion of the underlying bony structures. The patient had typical cherubic facial appearance. The skin and subcutaneous tissues were normal. No ophthalmic abnormalities were seen. The facial expressions were normal.The swelling was extending from the lateral border of the ala of the nose to the tragus of the ear. Supero-inferiorly it was extending from inferior orbital margin to the lower border of the mandible with obliteration of the nasolabial fold. The approximatesize of the swelling was 7cm×8 cm. This jaw enlargement was painless, tender-less and it was hard in consistency. Intra-oral examination revealed clinically missing 35 and 45. A hard, non-tender roughly oval shaped swelling was seen in the right side of the palate extending from the first premolar to second molar region (Fig-3 & 4). The patient gave a history of malodour from mouth and bleeding while brushing since last one year. On examination, calculus and plaque depositswith bleeding on probing was present on lingual surfaceof lower anterior teeth. Panoramic radiograph (Fig.5) revealed well defined, multi-locular, radio-luscent lesions of the jaws involving maxilla, bilateral posterior region of the body of the mandible, angle and ramuses extending up to the base of the coronoidprocess. There was involvement of the anterior part of the mandible extending from canine to canine region. Based on clinical and radiographic findings, our provisional diagnosis was cherubism. Giant cell granuloma was the differential diagnosis.The patient was referred to a paediatrician for systemic evaluation. There the patient underwent several investigations namely, routine haematological evaluation, routine urine analysis, chest x-ray and USG scan of the abdomen. All these reports were normal. The patient was further referred to a cardiologist for trans-thoracic echocardiography and ECG evaluation and the reports were normal. Because there are no blood markers for cherubism. No unusual biochemical findings have been reported in patients with cherubism. The most useful biochemical investigations are serum calcium, phosphate, parathyroid hormone (PTH) and alkaline phosphate levels which were within normal range and serve to differentiate it from hyperparathyroidism in which all of them are elevated. Hence, the patient was finally diagnosed as cherubism.Scaling was done and oral hygiene instructions were given. The patient was advised to have regular follow-up evaluation until puberty. Discussion Cherubism is a rare, autosomal dominant disease that causes painless, relatively symmetric expansile lesion resulting in gross deformity of jaws. Anderson and McCleden have evaluated 65 cases from 21 different families and suggested that the pattern of inheritance was autosomal dominant.5 Similarly, in the present case the family history was positive because the patient’s father suffered from cherubism in childhood. The progressive swelling of the face, with marked increase in fullness of cheeks and jaws was due to enlargement and expansion of the underlying bony structures. In this case the patient had typical cherubic facial appearance. The bilateral severe enlargement of maxilla when present, contributes to cherubic analogy by causing stretching of skin of the cheeks, thus exposing a thin line of sclera causing ‘eyes raised to heaven’ look. This was not observed in our case and it is rarely encountered in other case reports. Radiographically, cherubism appears as fine, granular bone with thin trabeculae, forming a multi-locular lesion. The peripheries of the lesions are usually well-demarketed. The lesion can push the tooth in anterior direction and can sometimes destroy the tooth buds or lead to abnormal path of tooth eruption.6 In the present case, impaction of 35 and 45 was seen. Unfavourable eruption path of 17, 27 and congenitally missing 18,28,37,38,48 teethwere seen in the panoramic view. According to Ramon and Engelberg7 grading system, our patient belongs to Grade-2 cherubism. Because of the bilateral involvement of the ascending rami of mandible and maxillary bone. The patient had no carious teeth on clinical and x-ray evaluation. Scalingwas done and oral hygiene practice instructions were given. However, regular follow-up was suggested for evaluation of teeth and supporting structures. The differential diagnosis of cherubic lesions includegiant cell tumor, fibrous dysplasia, brown tumor of hyperparathyroidism and central and peripheral giantcell granuloma. In the molecular level, cherubismand fibrous dysplasia are two different entities as theyboth result from different mutations. Cherubism results from a different mutation. Those in SH3 binding protein SH3BP2 on chromosome 4p16.3 that isdifferent from that of craniofacial fibrous dysplasia and hence, the two are different entities at the molecular level.2,3 Central giantcell granuloma occurs slightly later (10 to 30-years of age), hence it may not be considered on clinical grounds itself. It does not occur bilaterally, it is not inherited, and it does not reduce in adulthood and usually affects the anterior mandible.Histopathologically Giantcell tumour resembles cherubism, but it is uncommon in the jaws, usually affects 20 to 40 year old patientsand is seen unilaterally. Bony changes in brown tumorare rarely seen in an isolatedmanner and cause abnormal blood calcium, phosphorus and alkaline phosphatase levels. Cherubism will not affect bone metabolism; hence bone markers are usually at normal levels with respect to age.8,9 After the end of skeletal growth, the cystic lesion becomes static and fills in with granular bone. Therefore the treatment can be delayed in these patients. The usually recommended rule for management involves waiting for the disease regression. Upon completion of the skeletal growth, conservative surgery may be required for the correction of cosmetic problems to return the contour of enlarged bone.6 Early surgical intervention prior to puberty is the general option in severe cases with functional impairments such as nasal obstruction, proptosis, hearing, speech and swallowing difficulties. Many surgical techniques such as partial resection, contour resection, curettage, and a combination of the aboveare mainly used.10 Conclusion Cherubism is a benign bony lesion affecting onlyjaws. Clinical and radiologic examination leads us to the diagnosis.Patients seek medical treatment mainly foresthetic and functional concerns. Because the lesion undergoes regression, the surgical management is usually delayed until puberty. However, in patients with severe functional, cosmetic problems or emotional disturbances, surgical intervention consisting of debulking of lesions with surgical recontouring can be considered. Conflict of interest: Nil Source of support: Nil