Fibrous Dysplasia and McCune-Albright Syndrome Management

Fibrous dysplasia is a mosaic skeletal disorder in which normal bone is replaced by benign fibro-osseous tissue, giving rise to pain, deformity and fracture risk. When accompanied by café-au-lait macules and endocrine hyperfunction, it is classified as McCune-Albright syndrome. Management requires a multidisciplinary strategy that integrates orthopaedic, endocrinological and rehabilitative expertise. Initial assessment combines clinical evaluation, radiology and, when necessary, histological or molecular confirmation of GNAS mutations. Medical therapy centres on pain control and mitigation of bone turnover, chiefly through bisphosphonates or emerging antiresorptive agents, alongside targeted treatment of endocrinopathies such as precocious puberty, hyperthyroidism and phosphate wasting. Surgical intervention is reserved for correction of deformities, relief of compressive complications (notably in the craniofacial skeleton) and stabilisation of fracture-prone segments. Consensus guidelines advocate regular monitoring of skeletal burden, endocrine function and quality of life, with individualised care plans that evolve over the patient’s lifespan. Advances in imaging, molecular diagnostics and targeted therapies are reshaping optimal care pathways, emphasising patient engagement and global collaboration to ensure best practice in this rare but impactful condition.

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Fibrous Dysplasia and McCune-Albright Syndrome Management publication trend

The graph below shows the total number of articles in fibrous dysplasia and mccune-albright syndrome management across all publications each year (not limited to Nature Index journals).

Technical terms

Fibrous dysplasia: A bone disorder characterised by replacement of normal bone with fibrous tissue due to somatic GNAS mutations.

McCune-Albright syndrome: A condition combining fibrous dysplasia with café-au-lait skin pigmentation and hyperfunctioning endocrinopathies arising from GNAS mutations.

GNAS gene: A gene encoding the stimulatory G-protein α-subunit, whose post-zygotic activating mutations drive abnormal bone and endocrine tissue activity.

Bisphosphonates: A class of antiresorptive drugs that inhibit osteoclast-mediated bone breakdown, commonly used to reduce pain and stabilise lesions in fibrous dysplasia.

References

1. Patient-Derived Organoids Recapitulate Pathological Intrinsic and Phenotypic Features of Fibrous Dysplasia. Cells (2024).
2. A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects. International Journal of Molecular Sciences (2023).
3. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet Journal of Rare Diseases (2019).