Aka
familial multilocular cystic disease of the jaw.
A rare disease of the bone. This bony dysplasia is inherited as an autosomal dominant character with variable expresivity. The descriptive term cherubism related to the cherub-like appearance of the patient with the disease.
Clinical features
Children with cherubism appear normal at birth, but painless swelling of the jaws appear between the ages of 2 - 4 years old.
These swelling are usually symmetrical and always involve the mandible, and sometimes the maxillae. They enlarge rather rapidly for the first few years, until about the age of 7 years, the they become static and eventually regress in adult life.
The characteristic facial deformity is a fullness of the cheeks and jaws producing a typical chubby face. The maxillary lesions can cause upward displacement of the orbit, so that the eyes appear upturned to heaven. --> Like a cherub.
Abnormalities of the dentition include premature loss of deciduous teeth and displacement, lack of eruption and failure of development of many permanent teeth.
Radiographic features
Multilocular radiolucent lesions with expansion and severe thinning of the cortical plates which may even be perforated. Commonly, these lesions are found symmetrically at the angle of the mandible and appear to spread to the body and ramus of the bone.
Pathology
Histopathology reveals lesions consisting of cellular and vascular fibrous tissue with a variable number of multinucleate giant cells. These resemble those of other giant-cell lesions of the bone, and hence diagnosis is made in conjunction with clinical history.
Biochemistry is normal, but serum alkaline phosphatase may be slightly raised during periods of active expansions of the lesions.
Treatment
It is a self - limited condition and there is a progressive improvement in facial appearance from puberty onwards.
Conservative cosmetic surgery is may be required.