A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects

Abstract

Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic course of non-neoplastic fibrous tissue buildup in place of healthy bone. A myriad of factors have been associated with its onset and progression. Perturbation of cell–cell signaling networks and response outputs leading to disrupted building blocks, incoherent multi-level organization, and loss of rigid structural motifs in mineralized tissues are factors that have been identified to participate in FD induction. In more recent years, novel insights into the unique biology of FD are transforming our understandings of its pathology, natural discourse of the disease, and treatment prospects. Herein, we built upon existing knowledge with recent findings to review clinical, etiologic, and histological features of FD and discussed known and potential mechanisms underlying FD manifestations. Subsequently, we ended on a note of optimism by highlighting emerging therapeutic approaches aimed at either halting or ameliorating disease progression.

Polyostotic cystic fibrous dysplasia of the spine and ribs

“…In patients with extensive spinal involvement, like in our case, an option of surgery can be offered to the patient to prevent neural compression. When the involvement of multiple vertebral bodies necessitates resection across several segments, the process of stabilisation and fusion should be approached with care to prevent potential complications 12. Historically, medical treatments like calcitonin, etidronate and mithramycin have been employed.…”

A Case Series and Literature Review of Craniofacial Fibrous Dysplasia

“…The fibro-osseous anomaly in FD causes disordered and disorganized structural characteristics. Because FD is uncommon and often goes misdiagnosed, its epidemiology is still poorly known [ 4 ]. The aetiology is linked to a mutation in the alpha-subunit (Gs-alpha) of the G signalling coupling protein expressed by gene GNAS (guanine nucleotide binding protein alpha stimulating) [ 5 ].…”

Vitamin D Attenuates Fibrotic Properties of Fibrous Dysplasia-Derived Cells for the Transit towards Osteocytic Phenotype

“…Fibrous dysplasia (FD) represents a complex interplay between aberrant cellular activities and dysregulated extracellular matrix (ECM) dynamics, culminating in the accumulation of dense fibrous tissue within affected bone regions. The pathogenesis of FD involves atypical pre-osteoblastic and mesenchymal stromal fibroblastic cell populations, whose actions drive the pathological alterations observed in FD lesions [1,2]. Central to these aberrations is the GNAS mutation in bone marrow mesenchymal stem cells (BMSCs), which disrupt cyclic AMP (cAMP)-associated pathways to trigger a cascade of pathological events [3].…”