Fibrous Dysplasia Rare Bone Disorder With Serious Consequences

Leo Migdal

-Dec 5, 2025, 9:06 PM

fibrous dysplasia rare bone disorder with serious consequences

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 Fibrous dysplasia makes your body grow weaker fibrous tissue in your bones instead of healthy bone tissue.

It can affect any bone in your body. Having fibrous dysplasia makes you more likely to experience bone fractures throughout your life. Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy

Fibrous dysplasia is a rare bone condition that happens when abnormal fibrous (scar-like) tissue replaces healthy bone tissue. The condition weakens your bones and may increase your risk of bone fractures. Fibrous dysplasia (fI-bruhs-dis-play-zhee-uh) can affect any bone in your body. But it most commonly affects the: Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission.

We do not endorse non-Cleveland Clinic products or services. Policy Fibrous dysplasia is a benign bone disorder. That means it won’t spread to other bones. Fibrous dysplasia is a very rare[2] nonhereditary genetic disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture, deformity, functional impairment, pain, and the impingement of nerves.[3] Disease occurs along a broad clinical spectrum ranging from mostly asymptomatic incidental lesions, to severe disabling disease.

Disease can affect one bone (monostotic), multiple (polyostotic), or all bones (panostotic)[4][5] and may occur in isolation or in combination with café au lait skin macules and hyperfunctioning endocrinopathies, termed McCune–Albright syndrome.[3] More rarely,... Fibrous dysplasia is a mosaic disease that can involve any part or combination of the craniofacial, axillary, and/or appendicular skeleton.[7] The type and severity of the complications therefore depend on the location and extent... The clinical spectrum is very broad, ranging from an isolated, asymptomatic monostotic lesion discovered incidentally, to severe disabling disease involving practically the entire skeleton and leading to loss of vision, hearing, and/or mobility.[citation needed] Individual bone lesions typically manifest during the first few years of life and expand during childhood. The vast majority of clinically significant bone lesions are detectable by age 10 years, with few new and almost no clinically significant bone lesions appearing after age 15 years.[8] Total body scintigraphy is useful... Children with fibrous dysplasia in the appendicular skeleton typically present with limp, pain, and/or pathologic fractures.

Frequent fractures and progressive deformity may lead to difficulties with ambulation and impaired mobility. In the craniofacial skeleton, fibrous dysplasia may present as a painless "lump" or facial asymmetry. Expansion of craniofacial lesions may lead to progressive facial deformity. In rare cases, patients may develop vision and/or hearing loss due to compromise of the optic nerves and/or auditory canals, which is more common in patients with McCune-Albright syndrome associated growth hormone excess.[9] Fibrous... Bone pain is a common complication of fibrous dysplasia. It may present at any age, but most commonly develops during adolescence and progresses into adulthood.[7]

Fibrous dysplasia is a benign (noncancerous) bone condition in which abnormal fibrous tissue develops in place of normal bone. As these areas of fibrous tissue grow and expand over time, they can weaken the bone — causing it to fracture or become deformed. Some patients with fibrous dysplasia experience few or no symptoms. In other cases, however, multiple bones are affected and the condition is more severe. These patients may need surgery to remove the affected areas of bone and prevent or repair any fractures or deformity. Fibrous dysplasia is rare, accounting for just about 7% of all benign bone tumors.

It can affect any bone in the body, but most often occurs in the: Fibrous dysplasia has been linked to a gene mutation that causes bone cells to make an abnormal type of fibrous bone. Although the abnormal bone begins to form before birth, its presence is often not discovered until childhood, adolescence or even adulthood. The condition is generally divided into two types: 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,... Fibrous Dysplasia (FD) is a rare bone disorder characterized by the abnormal development of fibrous tissue within the bones. This condition affects the normal growth and structure of the affected bones, leading to a range of symptoms and complications.

This article aims to provide a comprehensive overview of fibrous dysplasia, its causes, clinical manifestations, diagnosis, and management. Fibrous dysplasia is caused by a genetic mutation in the GNAS gene, which regulates the activity of an enzyme called Gsα. This mutation results in the overproduction of fibrous tissue in place of normal bone tissue. The exact cause of the GNAS gene mutation is often sporadic, occurring in individuals without a family history of the condition. The presentation of fibrous dysplasia can vary widely depending on the extent and location of the affected bones. Some common clinical features include:

Fibrous dysplasia is classified into three main types based on its distribution: Diagnosing fibrous dysplasia involves a combination of clinical evaluation, imaging studies (such as X-rays, CT scans, or MRI), and a bone biopsy to confirm the presence of fibrous tissue. Genetic testing for GNAS mutations may also be considered in some cases.

Fibrous Dysplasia Rare Bone Disorder With Serious Consequences

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Correspondence: Lionheo@snu.ac.kr; Tel.: +82-31-787-7229; Fax: +82-31-787-4055 Received 2023 Sep 16;

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