Surgical Management of Fibrous Dysplasia and Associated Syndromes.

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Abstract

[Indexed for MEDLINE] 2. J Plast Reconstr Aesthet Surg. 2025 Oct;109:137-143. doi: 10.1016/j.bjps.2025.08.013. Epub 2025 Aug 21. Skeletal and endocrine manifestations of McCune-Albright syndrome in patients with fibrous dysplasia. Pazelli AM(1), Srikumar JK(1), Gharavi A(2), Griepentrog GJ(3), Jabs EW(4), Moran S(5), Milbrandt T(5), Mardini S(1), Gibreel W(6). Author information: (1)Division of Plastic Surgery, Department of Surgery, Mayo Clinic, 200 1st St SW, Rochester 55905, MN, USA. (2)Mayo Clinic Alix School of Medicine, 200 1st St SW, Rochester 55905, MN, USA. (3)Department of Ophthalmology, Mayo Clinic, 200 1st St SW, Rochester 55905, MN, USA. (4)Department of Clinical Genomics, Mayo Clinic, 200 1st St SW, Rochester 55905, MN, USA; Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st St SW, Rochester 55905, MN, USA. (5)Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st St SW, Rochester 55905, MN, USA; Department of Orthopedic Surgery, Mayo Clinic, 200 1st St SW, Rochester 55905, MN, USA. (6)Division of Plastic Surgery, Department of Surgery, Mayo Clinic, 200 1st St SW, Rochester 55905, MN, USA; Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st St SW, Rochester 55905, MN, USA. Electronic address: Gibreel.Waleed@mayo.edu. McCune-Albright syndrome (MAS) is defined by a triad of fibrous dysplasia (FD), hyperfunctioning endocrinopathies, and café-au-lait spots. FD, characterized by the fibrous replacement of healthy bone, is a major source of morbidity in MAS. To characterize skeletal involvement and associated endocrinopathies in patients with MAS/FD, we conducted a retrospective review of patients with the diagnosis of both MAS and FD treated at our center between 1989 and 2024. Forty-three patients (29 female; median diagnosis age: 13.1 years) were included, with 41 presenting with polyostotic FD. Among these, 19 had both craniofacial and extracraniofacial involvement, 4 had craniofacial-only, and 18 had extracraniofacial-only disease. The lower extremities were most commonly affected (n=32), followed by the skull (n=25). All patients with lower extremity FD had femoral involvement; 10 had bilateral disease. Chronic pain was reported by 23 patients. Among those with lower extremity FD, 16 had deformities-most commonly leg length discrepancies (n=10) and shepherd's crook deformities (n=6). Femoral fractures occurred in 21 patients, with higher risk in those with deformities (p=0.006). Precocious puberty occurred at a median age of 4.8 years. Hyperfunctioning endocrinopathies were observed in 17 patients: cortisol excess (n=2), hyperthyroidism (n=8), elevated GH/IGF-1 (n=10), and phosphate wasting (n=6). Hormone levels, age at puberty, and age at diagnosis were not associated with fracture or deformity risk (p>0.05). One patient developed osteosarcoma requiring above-knee amputation. In conclusion, extracraniofacial skeletal disease and endocrinopathies are common in MAS. Coordinated interdisciplinary care is vital to manage deformities and systemic complications. Copyright © 2025 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved. DOI: 10.1016/j.bjps.2025.08.013