A Rare Skeletal Disorder Fibrous Dysplasia A Review Of Its

Correspondence: lionheo@snu.ac.kr; Tel.: +82-31-787-7229; Fax: +82-31-787-4055 Received 2023 Sep 16; Revised 2023 Oct 16; Accepted 2023 Oct 23; Collection date 2023 Nov. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). 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... 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. Keywords: fibrous dysplasia, bone disorder, GNAS mutation, variant G protein, rare disease, pathogenesis Received 2024 Nov 12; Accepted 2025 May 6; Collection date 2025.

This article is distributed under the terms of the Creative Commons Attribution 4.0 License (https://creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed... Fibrous dysplasia (FD) is a rare, benign skeletal disorder characterized by expansile, fibrotic bone lesions that replace normal bone, resulting in decreased bone strength, pain, and fractures. The clinical presentation of FD can vary widely, complicating the diagnosis. FD can manifest as monostotic (single bone) or polyostotic (multiple bones) disease and can occur independently or as part of McCune–Albright Syndrome (MAS), a genetic condition that includes café-au-lait skin hyperpigmentation and endocrine abnormalities. FD/MAS arises from activating mutations in the GNAS gene, leading to constitutive activation of the Gsα protein and elevated cAMP levels. Despite understanding the genetic cause of FD, effective treatments remain limited.

Current management strategies focus primarily on symptom control following the most recent comprehensive guidelines published in 2019. This review highlights emerging pharmacologic treatments, including denosumab, a monoclonal antibody that has shown promise in reducing lesion size and pain in FD patients, and burosumab, a monoclonal antibody targeting FGF23, which reduces renal... In addition, we review updates in advanced genetic testing techniques, such as cell-free DNA and direct lesion sampling for next-generation sequencing, which are promising methods for improving the diagnostic accuracy of FD. Finally, multimodal approaches for pain management in FD, including nonsteroidal anti-inflammatory drugs, bisphosphonates, and novel agents like cannabinoids, are being used alongside the traditional approaches with physical therapy and psychological support. Ongoing research aims to enhance our understanding of FD pathogenesis and develop targeted therapies that could potentially reverse disease progression. This review underscores the importance of implementing a multidisciplinary approach in the management of FD/MAS and finding new therapeutic approaches that will help address the diverse manifestations and improve the quality of life for...

Keywords: bisphosphonates, fibrous dysplasia, McCune-Albright syndrome, metabolic bone disease, pain management Fibrous dysplasia (FD) of the bone is a genetic skeletal dysplasia characterized by the abnormal formation of fibrous tissue in place of normal bone, leading to decreased bone strength, expansile bone lesions, and fractures. 1 FD accounts for 2.5% of all bone lesions and 7% of benign skeletal dysplasias, 2 with craniofacial and long bones being major sites. 3 Although the genetic mutations that lead to FD are known and are located at the GNAS locus, medical treatments for this disfiguring disorder are sorely lacking. 4 FD most commonly occurs in isolation as monostotic disease, but can also affect multiple bones (polyostotic FD) or be part of McCune–Albright Syndrome (MAS), a somatic mosaic genetic condition characterized by polyostotic FD,...

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