|Year : 2009 | Volume
| Issue : 1 | Page : 17-20
Grade V cherubism: A rare and aggressive entity
Karthikeya Patil, VG Mahima, S Sudhakar
Department of Oral Medicine and Radiology, J.S.S. Dental College and Hospital, Mysore (Karnataka)-570 015, India
|Date of Web Publication||14-Nov-2009|
Department of Oral Medicine and Radiology, J.S.S. Dental College and Hospital, S.S. Nagar, Mysore-570 015, Karnataka
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Cherubism is a non-neoplastic, rare, hereditary childhood disease of bone characterized by bilateral enlargement of the jaws caused by bone degradation and replacement by fibrous tissue. The affected child is reminiscent of the cherub portrayed in Renaissance art. We report the clinicopathological and radiographic features of cherubism and review of literature.
Keywords: Autosomal dominant, bilateral swelling, cherubism, multilocular
|How to cite this article:|
Patil K, Mahima V G, Sudhakar S. Grade V cherubism: A rare and aggressive entity. J Indian Acad Oral Med Radiol 2009;21:17-20
|How to cite this URL:|
Patil K, Mahima V G, Sudhakar S. Grade V cherubism: A rare and aggressive entity. J Indian Acad Oral Med Radiol [serial online] 2009 [cited 2020 Jan 22];21:17-20. Available from: http://www.jiaomr.in/text.asp?2009/21/1/17/57773
| Introduction|| |
At the 1931 Radiological Society of North America meeting, Jones described a hereditary condition of the jaws and called it 'Cherubism', after the upward gaze of the eye and the plump cheeks seen in cherubs. Cherubism has an autosomal dominant hereditary trait and is characterized by bilateral expansile lesions of the jaws ranging from minor lesions without hard tissue destruction to destructive lesions with obvious facial deformities.
| Case Report|| |
An 11-year-old boy reported with a complaint of painless swelling involving the right and left sides of the face. The patient's father gave a history of noticing the swelling 7 years ago on the right side of the face, which gradually increased and progressed to involve the left side. The swelling was asymptomatic since onset and had not regressed in its size at any time. There was no history of discharge from the swelling. The patient also gave a history of difficulty in chewing food and in speech for the past few months. There was no history of change in voice, change in vision, paresthesia or fever. The past medical and surgical histories were unremarkable. The family history was not significant.
General physical examination revealed a well-oriented, co-operative boy. He was moderately built and nourished with satisfactory vital signs. The right submandibular lymph node was enlarged, palpable, non-tender, measuring 1 Χ 1 cm in size, firm in consistency and mobile.
Extra-oral examination revealed a well-defined bilateral enlargement of the face measuring 4 Χ 3 cm in size each, extending superiorly from the infra-orbital region, downwards to the lower border of the maxilla. Mesiodistally the swelling extended from the ala of the nose on either side towards the zygomatic process of the maxilla. Another diffuse swelling measured 4 Χ 2 cm in size, bilaterally extending from the posterior border of the ramus of the mandible to the parasymphysis region [Figure 1]. The skin over the swellings appeared normal. There was no local rise in temperature and the swellings were non-tender. The swellings were bony hard in consistency and fixed to the underlying structure.
Intra-oral examination revealed a diffuse palatal swelling involving the entire palate, with a cleft in the midline extending from the rugae to the junction of hard and soft palate. The entire maxillary and mandibular arch showed expansion of the buccal and lingual cortical plates. The mucosa over the swelling appeared normal. Hard tissue examination revealed the presence of 13, 22, 26, 33, 34 and partially erupted 32 and 43. The teeth in the area of the lesion were mobile and non-tender on percussion [Figure 2] and [Figure 3].
Based on the history and clinical examination a provisional diagnosis of cherubism was made.
The patient was then subjected to radiological and histopathological investigations.
Orthopantomograph and lateral view of skull showed expansile multilocular cyst-like radiolucencies with ragged, poorly defined borders involving both the jaws. The radiolucencies were extensive and were separated from each other by thin wispy septa. The radiolucencies involved the entire maxilla and in mandible, extending from the neck of the right condyle, coronoid across the entire mandible and falling 2 cm short of the left condyle. Multiple impacted teeth in both the jaws were also present. The cortical bone at the base of the mandible was thinned but not disrupted even though there was expansion of the bone [Figure 4] and [Figure 5].
A biopsy specimen taken from the left maxillary alveolus showed a fibro-cellular connective tissue stroma consisting of numerous plump, spindle-shaped cells, blood vessels, areas of hemorrhage and multinucleated giant cells [Figure 6].
The clinical, radiological and histopathological findings of the lesion confirmed the diagnosis of cherubism.
Cherubism is known to be a benign self-remitting bone lesion with no specific line of treatment. Considering the extensive involvement of the jaws by the lesion and the amount of psychological impact it had on the patient, surgical recontouring was planned, but the treatment was deferred due to the parents' apprehensions. The patient is under observation and follow-up once in six months.
| Discussion|| |
Cherubism is a non-neoplastic disease of bone characterized by bilateral, painless enlargement of the jaws that are said to give the patient a 'cherubic' appearance. , The term cherubism originated from the upward gaze of the eyes with exposure of the sclera below the pupil and the plump cheeked little angels (cherubs) depicted in Renaissance paintings. ,,
Cherubism is generally inherited as an autosomal dominant trait. ,,,, However, a small number of cases without apparent familial involvement have also been reported. Cherubism is usually diagnosed early in childhood, often in the first decades of the life.  Classically, the affected child is normal at birth and develops the disease in the second or third year of life. The mean age for the development of clinical aspects of the disease is seven years and it tends to become more evident until puberty, after which spontaneous involution may occur approximately by the age of 20. ,, Then the lesions begin to be gradually replaced with bone. This can be attributed to the increase in steroids and plasma concentrations of estrogen and testosterone at puberty. These hormones can act directly in the inhibition of osteoclastogenesis or osteoclast function.
Clinically cherubism is characterized by swelling of cheeks and jaws, resulting in a round face, sometimes with retrusion of the lower eyelids that produces a visible sclera beneath the iris causing a characteristic "eye upturned to heaven appearance". ,, This is due to involvement of the infra orbital rim and orbital floor that tilts the eyeball upwards and due to the stretching of the upper facial skin that pulls the lower lid downwards.  Cherubism usually affects the mandible more than the maxilla. The mandibular lesion usually begins around the angle of the mandible and spreads to the ascending rami and body to involve the entire mandible.  There have been rare reports of unilateral cherubism as well. ,
Enlargement of regional lymph nodes is common, as seen in our case and this can contribute to the patient's full-faced appearance. These enlargements are said to be caused by reticulo-endothelial hyperplasia. The lymph nodes on an average enlarge before the patient reaches six years of age, decrease in size after the age of eight and rarely enlarge after the age of 12. ,
Intra-oral evaluation of cherubism shows bony expansion causing widening and distortion of the alveolar ridges that is firm and hard to palpation, with intact overlying mucosa. Frequently, cherubism is accompanied by abnormalities in the configuration of the dental arch or dental eruption. Premature exfoliation of deciduous or permanent teeth, resorption of roots, malformation, ectopic and unerupted teeth can also occur. ,, The most aggressive lesions may affect deglutition, swallowing, breathing and speech. , A rare case of a patient who died with pulmonary and GIT disturbances has also been reported. 
In 1998, Kalantar Motamedi proposed a grading system for the classification of cherubism, to address the location of involvement, clinical and the biological behavior of the disease.
Grade I - Lesions of mandible without signs of root resorption.
Grade II - Maxilla and mandible without root resorption.
Grade III - Aggressive lesions of mandible with root resorption.
Grade IV - Both the jaws are involved and root resorption present.
Grade V - Rare, massively growing, aggressive and deforming juvenile cases that involve the maxilla and mandible and may include the coronoid process and condyles.
The classification is based on the extent at the time of examination and the grade often increases on follow-up examination. Our patient falls under the grade V category, a rare and aggressive entity.
Radiographic examination of cherubism is described as unilocular or multilocular bilateral radiolucencies with ragged, poorly defined borders, within the jawbones. ,, The lesions may vary greatly in size, ranging from minor lesions to large deforming destructive ones.  The cortical bones at the mandibular base were found to be thin but not disrupted even though there was expansion of the bone, indicating the benign behavior of cherubism. Another factor that counts towards benignity is the integrity of the mandibular nerve.  However, there are a few reported radiographic findings that had a small maxillary sinus, a flattened sigmoid notch and inferior displacement of the mandibular nerve.  Faircloth et al. proposed that the lesion may affect coronoid process and not the condyle, probably because it exhibits a great quantity of compact bone which is difficult to invade. ,, However, there are a few cases where the condyles are affected as well. Although WHO (1971) describes cherubism as a non-neoplastic bone lesion that affects only the jaws, there are some patients who presented with peculiar cyst-like changes in the ribs, humerus, femur and tibia in radiographic examinations.  However, our patient did not have any such changes.
The histopathological evaluation of cherubism is not pathognomonic as the microscopic findings are similar to those of isolated giant cell granuloma and seldom permit a specific diagnosis for cherubism in the absence of clinical and radiological information. , When performed it reveals proliferative loose connective tissues containing fewer osteoclast-like multinucleated giant cells in a loose fibrous stroma than those seen in giant cell granuloma. , Numerous small blood vessels and large endothelial cells and perivascular cuffing are also noted within the stroma. The eosinophilic cuffing seems to be specific to cherubism. , These deposits are not present in many cases; however, their absence does not exclude the diagnosis of cherubism. In resolving lesions of cherubism, the tissue becomes fibrous; the number of giant cells decreases and new bone formation is seen. 
The treatment of cherubism has not been standardized, making it difficult to indicate a treatment protocol. As noted, cherubism does not progress after puberty and as the patient grows into adulthood the entire jawbone lesion tends to develop to a more normal configuration. Some patients may still demonstrate mild alterations even after the disease becomes quiescent. Patients with grotesque changes that are often very slow to resolve, causing facial and functional deformity with associated psychological problems may need surgical interventions (e.g., curettage, contouring, enucleation of tissues, osteotomy). 
Surgical treatment appears to be unnecessary in grade I and II cases in the absence of secondary disturbances. Sufficient removal of tissue by enucleation or curettage appears to be necessary in grade III, IV and V. , Reports depict that surgical contouring during the growth phase causes rapid re-growth of the lesion. Conversely, favorable results have also been published after curettage and cortical reshaping (recontouring) performed during the rapid growth in cherubic lesions.  Several investigators have suggested the use of calcitonin in severe cases, but such therapy awaits further study. 
The problem of early loss of deciduous and delayed development and eruption of permanent teeth is difficult, and no satisfactory solution is available. Space maintainers are used while waiting for the permanent teeth to erupt. Surgical exposure of the impacted teeth is sometimes necessary.  Radiation therapy is contra-indicated because of the potential for long-term adverse consequences like retardation of jaw growth, osteoradionecrosis and increased incidence of malignancy such as post radiation sarcoma. ,,
| Conclusion|| |
Cherubic lesions, as seen in our case with asymptomatic, aggressive, atypical involvement of both the maxilla and mandible are extremely rare. Timely diagnosis and appropriate explanation of the benign nature of the condition is intended to reduce the apprehensions of the child and his family. However, it is important to constantly review the patient for reassurance and to look for any further changes. Although a number of treatment modalities have been tried in the past, none of them have been proved to be entirely successful. With this ambiguity in mind, to treat or not to treat still remains a dilemma.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]