title: Fibrous dysplasia of bone: craniofacial and dental implications.
abstract: 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.
authors: Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
authors: A B
authors: AB
authors: Burke
authors: Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
authors: M T
authors: MT
authors: Collins
authors: Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.|Division of Endocrinology and Diabetes, Children's National Health System, Washington, D.C., USA.|Bone Health Program, Division of Orthopaedics and Sports Medicine, Children's National Health System, Washington, D.C., USA.
authors: A M
authors: AM
authors: Boyce
mesh_terms: D019080:Cafe-au-Lait Spots / Q000209:etiology; D019465:Craniofacial Abnormalities / Q000209:etiology; D003937:Diagnosis, Differential; D005146:Facial Asymmetry / Q000209:etiology; D005357:Fibrous Dysplasia of Bone / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008310:Malocclusion / Q000209:etiology*; D011629:Puberty, Precocious / Q000209:etiology
keywords: GNAS gene; McCune-Albright syndrome; craniofacial bone disease; dental anomalies; fibrous dysplasia