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.

Maxillo-mandibular Contouring Surgery in Monostotic Fibrous Dysplasia Patients using Simulation Surgery

“…Successful treatment of FD depends on an accurate diagnosis, radiographic assessment, surgical plan, surgeon's experience, surgical skill, hospital facility and patient's expectation (13)(14)(15). There is no effective medical therapy for FD.…”

Various Radiographic Appearances of Fibrous Dysplasia in the Mandible - A Case Report

“…The upper jaw is more frequently affected than the lower jaw and often demonstrates unilateral lesions in the posterior area [4,11]. In many cases involving lesions in the jaw area, the initial examination is accidental and occurs in the context of dental radiographic examinations in patients in the second and third decade of life [12]. This is due to the asymptomatic course of the disease, which is characterized by slow, mostly painless growth.…”

Effects of BMP‐2 on the osteogenic differentiation of bone marrow stem cells in fibrous dysplasia

“…FD is caused by random somatic mutation of the GNAS gene, which encodes the alpha subunit of stimulatory G proteins (Gsα) (Bianco et al., ) with constitutive activation of adenylyl cyclase and overproduction of cyclic adenosine monophosphate (cAMP) (Burke, Collins, & Boyce, ). FD occurs either in isolation or in association with skin and endocrine features, called McCune–Albright syndrome (MAS) (Boyce & Collins, ; Burke et al., ). Craniofacial FD with disorder of the maxilla and mandible, such as malocclusion and dental crowding or spacing, was found in about 90% of patients with MAS (Ricalde, Magliocca, & Lee, ).…”

“…While the effects of FD are usually seen in the long bones, the skull also can be affected by FD, which causes changes in the shape of the face and hearing or vision loss (Bowers, Taussky, & Couldwell, 2014;Wu et al, 2014;Yuksel, Gurbuz, Okay, & Kabalar, 2017). FD is caused by random somatic mutation of the GNAS gene, which encodes the alpha subunit of stimulatory G proteins (Gsα) (Bianco et al, 1998) with constitutive activation of adenylyl cyclase and overproduction of cyclic adenosine monophosphate (cAMP) (Burke, Collins, & Boyce, 2017). FD occurs either in isolation or in association with skin and endocrine features, called…”

“…McCune-Albright syndrome (MAS) (Boyce & Collins, 2015;Burke et al, 2017). Craniofacial FD with disorder of the maxilla and mandible, such as malocclusion and dental crowding or spacing, was found in about 90% of patients with MAS (Ricalde, Magliocca, & Lee, 2012).…”