Cherubism is a rare autosomal dominant disease of the maxilla and mandible. Approximately 200 cases have been reported by medical journals with the majority being males. The cause of the disease is believed to be traced to a genetic defect resulting from a mutation of the SH3BP2 gene from chromosome 4p16.3. Normal bone remodeling activity may resume after puberty.
These and several others aspects of the reported knowledge on this pathology motivated us to present this paper which will present a complete family affected by Cherubism with different involvement in several members who do not follow the conventional presentation of this disease.
Six members of the same family presented with different stages of development of Cherubism, 3 females of 12, 25 and 45 years old and 3 males of 5, 7 and 14 years old. Clinical presentation varied from unilateral maxillary peripheral lesion to a total involvement of the facial bones in a very dramatic manner.
Various treatment modalities were used in these patients including a right hemi mandible resection for a malignant degeneration of one of the large lesion of the mother of the family.
The aims of this paper are to present the evolution of these patients giving special attention to those issues that are not usual shown in the scientific literature. We will present the genetic family tree and our understanding on this disease after treated this family for 20 years.
Conflict of interest: None declared.