[Fibrous dysplasia]

Abstract

Fibrous dysplasia is a benign intraosseous tumor, which can occur as a monostotic or polyostotic disease. As a combination of dermatological and endocrinological features it is known as McCune-Albright syndrome, in conjunction with intramuscular myxoma as Mazabraud's syndrome. Fibrous dysplasia originates from a genetic defect, a postzygotic mutation of the GNAS gene, leading to incorrect regulation of the osteogenesis of the affected area of the bone. The weakening of the bone causes a variety of symptoms ranging from isolated local pain, acute fractures up to severe deformation of the bones. In the latter case the patients may lose the capability of walking. The orthopedic treatment provides suitable methods to set and stabilize fractures, to strengthen weakened bones and to straighten out and stabilize deformed long bones. This can help many patients return to a high level of pain-free mobility and even allow the most badly affected patients to lead a better life with a restricted mobility.

Keywords: Benign bone tumor; Coxa vara; GNAS gene; Intramedullary stabilization; McCune-Albright syndrome.