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Page 2 of 5 Garlick et al. Plast Aesthet Res 2018;5:29 I http://dx.doi.org/10.20517/2347-9264.2018.36

described [2,3,5] . The spectrum of cases ranges from clinically undetectable to severely disfiguring. This rare
disease is usually clinically noticed within the first few years of life and will continue to progress through
childhood until puberty, after which, many cases will spontaneously regress . Dental abnormalities, such
[6]
as malocclusion and congenitally missing deciduous and permanent teeth along with delayed eruption are
[7]
[5,6]
common . Treatment for these dental problems yield no satisfactory solutions .
Cherubism is usually inherited in an autosomal-dominant fashion with variable penetrance (100% in males
and 50%-70% in females) and expressivity. However, there are a few reported nonfamilial inheritance cases .
[8,9]
Mutations in the gene SH3BP2 have been identified as causal of cherubism in most patients .
[10]
Radiographically, cherubism is commonly described as bilateral, well-defined, multilocular radiolucent
areas located commonly at the level of the angle and ramus of the mandible . The histopathology of the
[11]
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. Early surgical intervention is usually advocated only for severe cases [7,11-14] .

We present herein a cherubism case of an 4-year-old boy with moderate but rapidly expanding burden
of disease. He underwent surgical management with curettage of the tumor, lateral cortex mandibular
osteotomies and repositioning with an excellent outcome.

CASE REPORT
An otherwise healthy 4-year-old boy presented with progressive swelling of the cheeks. The patient’s father
had a history of cherubism which required multiple operations. The family’s awareness of the disease allowed
early recognition of the condition. On clinical evaluation the child had obvious deformity of his lower face,
significant malocclusion, a narrow V-shaped palate and phonation difficulties [Figure 1A-C]. According
to the family, these findings had progressively worsened over time, but particularly accelerated in the few
months prior to presentation.

Given the rapid expansion of the boy’s jaw and the functional and psychosocial impairment that the child
was beginning to experience, the decision was made to forego observation and recommend surgical curettage
with mandibular repositioning. A facial CT scan with 3D reconstruction was obtained to aid in the surgical
planning [Figure 2A and B].

Under general anesthesia, the mandible was approached through bilateral lower buccal sulcus incisions.
The tumor was encountered under the soft tissue, as it had eroded through the bony cortex at the level of
the mandibular angle. Given the friable nature of the tumor and the clear delineation between diseased and
healthy tissue, it was easily curetted from the surrounding normal bony cortex without injury to the infra-
alveolar nerve, intra-medullary molars, and surrounding bony cortex. With the tumor removed, the displaced
buccal mandibular cortex was osteotomized. Using a Piezo Electric bone cutter (DePuy Synthes), anterior,
inferior and posterior osteotomies were performed, protecting the surrounding soft tissue that remained
attached to the buccal mandibular cortex through intact periosteum. The mobilized buccal mandibular
cortex was then infractured and completely medialized, obliterating the enlarged intramedullary space. The
procedure was replicated on the contralateral side.