IBMS BoneKEy | Perspective

Fibrous dysplasia of bone and McCune-Albright syndrome

Roland D Chapurlat

---

DOI:10.1138/20100424

Abstract

Fibrous dysplasia of bone (FD) is a genetic, non-inheritable disease, characterized by bone pain, bone deformities and fracture, involving one or several bones, and due to missense mutations occurring postzygotically in the gene coding for the α subunit of the stimulatory G-protein, Gs, in the GNAS complex locus in chromosome 20q13. This mutation results in osteoblastic differentiation defects. Bone resorption is also often increased, driven by increased osteoblastic IL-6 secretion. The bone lesions may be associated with endocrine dysfunctions and café-au-lait spots; this is McCune-Albright syndrome (MAS). Patients with polyostotic FD often have renal phosphate wasting. Many patients, however, are affected with a mild form of FD, which does not deserve any aggressive therapy. Bisphosphonates have been used to treat bone pain and strengthen bone, based on results from open studies. Targeted therapies might be used in the future.

---

This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.