Bone Abstracts

Background: Cherubism is a rare autosomal dominant bone disease characterized by bilateral painless enlargement of the jaws, that typically first appear at the age of 2–7 years. In this condition the affected bone is replaced with fibrous tissue, giving the patient a cherubic appearance.

Until now only 300 cases have been reported in the literature.

Case report: A caucasian 4-year-old male child came to our Pediatric Clinic complaining pain and bilateral swelling of the face. His parents reported that the swelling started gradually, increasing in size from the age of three years. His past medical history was unremarkable.

Intraoral examination showed bilateral expansion of the mandibular angle extending to the retromolar and molar regions. Panoramic radiography showed generalized multicystic bilateral lesions affecting mandible and maxilla and the absence of several teeth buds. MRI images confirmed the panoramic radiography findings. Mineral metabolism markers are within normal range.

His mother reported that during childhood she suffered from the same problem. At 12 years old she underwent jaw surgery for aesthetic problems. Histopathological examination of the biopsy specimens showed proliferating fibrous connective tissue interspersed by multinucleated giant cells.

Her bone lesions presented a pattern of enlargement until 20 years and then regressed. At the moment of the evaluation of the child, the mother was 35 years old and her condition showed a complete regression.

Thus, we diagnosed a case of familial cherubism. The child is now under clinical and radiological observation. He will undergo biopsy, when he will need surgery.

Discussion: Usually, the diagnosis of cherubism is based on a combination of patient age, skeletal distribution of lesions, radiographic findings and histopathological features. A positive family history for cherubism could confirm the diagnosis, but biopsy and gene testing are often recommended. It is important to improve our current knowledge of pathophysiology of this disorder to evaluate future medical treatment.