1/55. Gingival fibromatosis combined with cherubism and psychomotor retardation: a rare syndrome. Gingival fibromatosis is frequently an isolated condition, but rarely associated with some uncommon syndromes. This paper describes an 11-year-old patient with pronounced gingival enlargement, cherubic facial appearance, and psychomotor retardation and discusses the major aspects of the case. The most striking finding orally was the presence of grossly hyperplastic gingiva, which completely covered all teeth except the occlusal surfaces of some teeth. The swelling in the lower part of the face and the appearance of sclera beneath the iris suggest cherubism. The diagnosis was confirmed by the detection of giant cell regenerative granuloma and perivascular eosinophilic particles and osteoclasts after biopsy of the mandible. In this case, surgery was the only effective way to treat the patient. A full-mouth gingivectomy procedure was performed under general anesthesia in 2 stages. The case was followed for 12 months and no recurrence was seen. An appropriate oral hygiene regimen was established. ( info) |
| AIMS: To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in-depth modern biochemical study of four children in the same family. SUBJECTS AND methods: Four related children with cherubism were studied. Tissue taken from one of the children at elective decompression of an optic nerve was submitted to in vitro bone resorption studies. Cytogenetic studies were done on two of the children and biochemical studies on all four. RESULTS: The multinucleate cells in the cherubic lesions were shown to be osteoclasts since they synthesised tartrate resistant acid phosphatase, expressed the vitronectin receptor, and resorbed bone. bone resorption by the cultured multinucleate cells was significantly inhibited by calcitonin. High resolution cytogenetic studies failed to detect any chromosomal abnormalities in two children with cherubism. The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels. urine analysis of pyridinium and deoxypyridinium cross links, hydroxyproline, and calcium in relation to urine creatinine were measured to assess bone resorption in these children, and the values were at the upper end of the normal range in all four. CONCLUSIONS: Further studies are required to determine whether calcitonin treatment will control this grossly deforming disease until the time when the physiological changes that occur at puberty rectify the pathology. It is not recommended that biochemical markers of bone resorption are used in isolation to monitor the activity of cherubism in individuals because the results are based on a small number of children and because of reports of marked interindividual variation in the levels of these markers, particularly in children. ( info) |
3/55. cherubism: clinicopathologic features. A case of cherubism in 6-year-old boy is reported. He presented with bilateral symmetrical enlargement of the jaw in addition to medially dislocated premature teeth, narrow V-shaped palatal vault, and mild upward turning of the eyes. Radiographs showed multiloculated osteolysis in both the mandible and maxilla. histology revealed a non-neoplastic fibrous lesion, rich in multinucleated giant cells, consistent with giant-cell reparative granuloma. Since the original description of cherubism, various histologic interpretations have been proposed, particularly that of fibrous dysplasia. However, it should be emphasized that cherubism is a disease histologically indistinguishable from giant-cell reparative granuloma. ( info) |
4/55. Non-familial cherubism--a case report. A case of cherubism in a 9 year old boy with no familial history is presented. Clinical features, histologic appearance, radiographic findings, differential diagnosis and rationale for treatment is discussed. ( info) |
5/55. Craniosynostosis in cherubism. cherubism is a rare autosomal dominant fibro-osseous disorder that affects almost exclusively maxilla and mandible. Extracranial skeletal involvement is rare. We report on three affected males in three generations. The youngest affected relative was examined at age 4 months. He also had craniosynostosis. His affected father and grandfather had cherubism and clubbing of the fingers. cherubism was mapped to region 4p16. Because of the associated cranio-synostosis, we excluded the FGFR3 gene as a candidate gene for cherubism. ( info) |
6/55. Orbital involvement in cherubism. cherubism is a rare, inherited condition characterized by fibro-osseous lesions of the maxilla and mandible. It has recently been localized to chromosome 4p16.3. The fullness of the lower half of the face and retraction of the lower lids gives the characteristic 'eyes raised to heaven' cherubic appearance. A case report of a 7-year-old girl with extensive orbital involvement of cherubism is presented. The patient underwent multidisciplinary surgery for the bony lesions, which extended from the maxillary antrum into adjacent structures, including extensive extraperiosteal orbital involvement. cherubism may have orbital manifestations including lower lid retraction, proptosis, diplopia, globe displacement and visual loss due to optic atrophy. Ophthalmologists should be aware of the syndrome, its ophthalmic features and overall management. ( info) |
7/55. cherubism--clinical picture and treatment. cherubism is a rare, painless, disfigurating disease primarily affecting bones of the jaws. OBJECTIVE: To report on five patients with cherubism. The symptoms of the disease, methods of management and possible mode of inheritance are discussed and literature is reviewed. patients: The study involves five cherubs, members of one family. The diagnoses were based on history, physical examination, laboratory tests, X-ray parameters, and clinical follow-up. One member of the family had surgical intervention. The remaining cases were left for observation. RESULTS: Good aesthetic and long lasting effect was reached in the operated patient. CONCLUSIONS: Treatment is unnecessary unless functional or emotional disturbances develop. An autosomal recessive pattern of inheritance is suggested for these cases, although autosomal dominant transmission has been previously established. ( info) |
8/55. Orbital involvement in cherubism. PURPOSE: To demonstrate the clinical, radiologic, and histopathologic features of a patient with orbital involvement in cherubism that prompted surgical treatment. DESIGN: Single interventional case report. INTERVENTION: Findings of the ophthalmic evaluation, computed tomography (CT) scans, intraoperative examination, and light microscopy of the specimens were analyzed. MAIN OUTCOME MEASURES: Globe displacement, orbital bony lesions detected on CT scans, histopathology, and postoperative results were assessed. RESULTS: A 27-year-old female was seen with a slowly progressive superonasal globe displacement and a temporal orbital mass bilaterally of 6 years' duration. She had a history of cherubism, but her cheeks and jaws had a normal appearance instead of the bilateral fullness of the lower half of the face typical of the disease. CT scans demonstrated multicystic bony lesions arising from the orbital floors bilaterally. The masses were excised using an anterior transcutaneous transseptal orbitotomy. Histopathology demonstrated numerous giant cells in a fibrovascular stroma, confirming the clinical diagnosis of cherubism. Postoperative recovery was complete. CONCLUSIONS: Orbital involvement in cherubism may develop beyond puberty, after stabilization or regression of the lesions in the jaws. patients with cherubism should be routinely evaluated by an ophthalmologist. ( info) |
| Two new cherubism cases have been documented and reported. Both were relatively mild clinically, being a Grade I within Motamedi's I to V clinical grading system. Each presented with bilateral posterior mandibular lesions having a multiloculated radiolucent appearance. In each case, detection with eventual diagnosis evolved from a mandibular molar failing to erupt (tooth No. 19). The partial literature review documented the wide spectrum of clinical expression of this disease and the consequent wide variation in its treatment. ( info) |
10/55. cherubism and its charlatans. cherubism is a rare hereditary condition characterised by progressive cystic proliferation of the mandible and maxilla in childhood, followed by post-pubertal involution of the process and jaw remodelling in adulthood. Its name is derived from the cherubic appearance that results from the jaw hypertrophy. Here, we present the case of a young boy with cherubism, in the context of his pedigree, to illustrate the clinical characteristics and their variable expression. We also seek to distinguish cherubism from central giant cell granuloma and giant cell tumour of the jaws, with which it holds a false synonymity. ( info) |