Summary

Cherubism is a benign fibro-osseous disorder of childhood, limited to the lower half of the face, the maxilla and particularly the mandible. The prevalence is unknown, but probably lower than 1 in 10,000. The age at onset is between 6 and 10 years, with bilateral painless swelling of jaws (giving the so-called cherubic look) associated with multicystic bone tumors and eyes-to-heaven appearance. Dentition is also abnormal at the sites concerned: tooth agenesis, noneruption, displacement, root resorption and malocclusions are common. Radiology contributes greatly to the diagnosis. Radiographs show well-defined multilocular radiolucencies and with age, thick sclerotic borders. The bone lesions are generally symmetrical. The definitive diagnosis is established histologically with samples showing randomly distributed multinucleated giant cells and vascular spaces within a fibrous connective tissue stroma can be observed. Multinucleated giant cells are positive for osteoclastic specific markers. Cherubism is a hereditary, autosomal dominant disease, with variable penetrance and expressivity. It can be caused by mutations in the SH3BP2 gene, which has been mapped to locus 4p16.3. Cherubism has also been associated with a range of other diseases such as Noonan syndrome and Noonan ``like'' syndrome (caused by mutations in the PTPN11 gene), Ramon syndrome associated with gingival fibromatosis and neurofibromatosis type I. Without treatment, cherubism might regress or, in rare cases, grow slowly. Conservative treatment is indicated. Nevertheless, surgical intervention (delayed until after puberty if possible) is suggested for improving maxilla mobility and the psychological status of the patients: curettage or surgical contouring may be proposed during the rapid growth of the lesions. This not only gives good immediate results, but may also prevent active growth of remnant cherubic lesions and even stimulate bone regeneration. Segmental mandibulectomy followed by reconstruction can be performed with good results in cases with extensive lesions and those at risk of pathologic fracture of the mandible. The benefits of drug treatments (calcitonin, interferon-alpha) are currently being investigated.