Familial Fibrous Dysplasia in Two Subsequent Generations in a Family

Abstract

Cherubism also known as familial fibrous dysplasia is a rare, non neoplastic, self-limiting fibro-osseous disorder commonly affecting the jaws in children and young adults. It is also described as familial multilocular cystic disease and familial benign giant cell tumor of the jaw. It is characterised by bilateral, painless swelling involving the mandible giving a cherubic (angel like) appearance. As it is a rare disorder, it is challenging to determine the disease frequency. A familial disorder like cherubism is more likely to be of autosomal dominant trait and shows 100% male sex predilection compared to female which is 50-70%. Although cherubism becomes noticeable in childhood (2-7 years of age), the treatment is however contentious as the disorder is believed to regress gradually after the onset of puberty and surgical intervention is to be decided based on aesthetics or functional difficulties. Numerous researches have been conducted to prove that cherubism is a genetically mediated disorder and the chromosome mapped is 4q16.3. This paper describes a case of an 11-year-old girl with cherubism and also encountered in two subsequent generations of a family, the father and his three children. The genetic and pedigree analysis carried out in this family proves hereditary basis in better understanding the genetic association related with the disorder. All the patients were educated about the disorder and were advised for surgical management after the onset of puberty