Fibrous dysplasia of bone: craniofacial and dental implications

Oral Dis. 2017 Sep;23(6):697-708. doi: 10.1111/odi.12563. Epub 2016 Sep 1.


Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease.

Keywords: GNAS gene; McCune-Albright syndrome; craniofacial bone disease; dental anomalies; fibrous dysplasia.

Publication types

  • Review

MeSH terms

  • Cafe-au-Lait Spots / etiology
  • Craniofacial Abnormalities / etiology
  • Diagnosis, Differential
  • Facial Asymmetry / etiology
  • Fibrous Dysplasia of Bone / complications
  • Fibrous Dysplasia of Bone / diagnosis*
  • Fibrous Dysplasia of Bone / therapy*
  • Fibrous Dysplasia, Polyostotic / complications
  • Fibrous Dysplasia, Polyostotic / diagnosis
  • Fibrous Dysplasia, Polyostotic / therapy
  • Humans
  • Malocclusion / etiology*
  • Puberty, Precocious / etiology