Cherubism: best clinical practice

Abstract

Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions proliferate and increase in size until puberty. The lesions subsequently begin to regress, fill with bone and remodel until age 30, when they are frequently not detectable.Fibro-osseous lesions, including those in cherubism have been classified as quiescent, non-aggressive and aggressive on the basis of clinical behavior and radiographic findings. Quiescent cherubic lesions are usually seen in older patients and do not demonstrate progressive growth. Non-aggressive lesions are most frequently present in teenagers. Lesions in the aggressive form of cherubism occur in young children and are large, rapidly growing and may cause tooth displacement, root resorption, thinning and perforation of cortical bone.Because cherubism is usually self-limiting, operative treatment may not be necessary. Longitudinal observation and follow-up is the initial management in most cases. Surgical intervention with curettage, contouring or resection may be indicated for functional or aesthetic reasons. Surgical procedures are usually performed when the disease becomes quiescent. Aggressive lesions that cause severe functional problems such as airway obstruction justify early surgical intervention.

Cherubism in a 4-year-old boy managed with tumor curettage, mandibular osteotomies and repositioning

“…From a psychological standpoint, early surgical intervention can have a very positive impact by preventing social ridicule and promote acceptance in the child's formative developmental years [7] . Furthermore, early tumor removal in the disease process, as advocated by the current report, could prevent any long-term sequelae requiring significantly more complex reconstructive surgery.…”

“…Furthermore, early tumor removal in the disease process, as advocated by the current report, could prevent any long-term sequelae requiring significantly more complex reconstructive surgery. Additionally, it has also been shown that early operation, with curettage during the growth phase can arrest the tumor growth, and not prompt rapid regrowth, thereby making it a favorable option in preventing further bony deformities [7,13,15,16] . Our report further strengthens this group of patients who have good outcomes with arrested tumor growth and excellent facial contouring following early surgical intervention.…”

“…The histopathology of the tissue involved in relation to cherubism demonstrates multinucleated osteoclast-like giant cells near bone and within the soft fibrous stroma. Although these findings are characteristic, the diagnosis of cherubism cannot be made from the histology alone [7] . The current recommended approach to the management of most cases of cherubism is to "wait and watch" into late adolescence, with the hope of spontaneous disease remission and therefore avoidance of early surgery.…”

“…Dental abnormalities, such as malocclusion and congenitally missing deciduous and permanent teeth along with delayed eruption are common [5,6] . Treatment for these dental problems yield no satisfactory solutions [7] . Cherubism is usually inherited in an autosomal-dominant fashion with variable penetrance (100% in males and 50%-70% in females) and expressivity.…”

“…The current recommended approach to the management of most cases of cherubism is to "wait and watch" into late adolescence, with the hope of spontaneous disease remission and therefore avoidance of early surgery. Early surgical intervention is usually advocated only for severe cases [7,[11][12][13][14] .…”