Orthopaedic diagnostic pitfalls in fibroblast growth factor 23-mediated hypophosphatemic rickets/osteomalacia in fibrous dysplasia/McCune-Albright syndrome: Two burosumab-treated cases.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 42733467.
- Also identified by DOI 10.1016/j.bonr.2026.101945 and PMC identifier 13571275.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) can obscure fibroblast growth factor 23 (FGF23)-mediated hypophosphatemic rickets/osteomalacia. We report two FD/MAS patients with recurrent fractures, hypophosphatemia, elevated FGF23, and serial imaging showing overlooked rachitic changes years before diagnosis. Burosumab improved serum phosphate levels after dose adjustment and was associated with mobility gains in Case 1 and increased growth velocity with physeal normalization in Case 2. Age-appropriate phosphate assessment and FGF23 testing are warranted when orthopaedic findings suggest impaired mineralization.