Cherubism: Familial cases in peru and diagnostic imaging and a review of the literature in Japan

Clinicopathologic study of 24 cases of cherubism

“…It appears to have 100% penetrance in males but only 50-70% penetrance in females 17 . However the penetrance is lower in this series (male, 66.7%; female, 48%) and 10 of the present patients are nonfamilial as has been reported in the literature 7,8 . Are these true sporadic cases of cherubism or only apparently sporadic due to some de novo genetic mutations, incomplete penetrance, or an inadequate family history?…”

Cherubism—clinical picture and treatment

“…The increased level of alkaline phosphatase in blood serum in four of our five patients confirms the observation of Hitomi et al , (1996).…”

“…Radiological data form the base for the diagnostic process (Hitomi et al , 1996). Computed tomographic scans (Bianchi et al , 1987; Wackene et al , 1987; Marck and Kudryk, 1992; Hitomi et al , 1996) and scintiscans (Wells and Sty, 1985; Hitomi et al , 1996, 1997) as well as plain radiographs provide the main evidence of benign osseous changes. Between the 18th month and 2nd year of life cherubism can be diagnosed mainly on radiological data (Faircloth et al , 1991).…”

“…The following changes can be observed: irregular, multilocular, well separated cyst‐like translucencies which cause bone expansion, leaving only a thin layer of cortical bone. Axial CT scans show disruption of the cortexes, which is more evident on the facial rather than on the lingual side (Hitomi et al , 1996). This finding was noted in one of our cases.…”

“…During the 50‐year existence of the Clinic of Maxillofacial Surgery in Lodz, only one family was observed, in 1954. Cherubism has also rarely been observed in other countries such as Japan and Peru (Suyama and Uragou, 1954; Hitomi et al , 1997).…”