Case Report: A case of x-linked hypophosphatemic rickets complicated with polyostotic fibrous dysplasia caused by PHEX gene mutation and literature review
-
By
-
March 18, 2026
Objective:
To report a rare case of X-linked hypophosphatemic rickets (XLH) complicated with polyostotic fibrous dysplasia (FD) due to a PHEX gene mutation, emphasizing the clinical significance and uniqueness of this case.
Key Findings:
- The patient exhibited clinical and imaging features of both XLH and polyostotic FD.
- A novel PHEX gene mutation was identified, suggesting a unique clinical phenotype with potential implications for diagnosis and treatment.
- Treatment resulted in significant improvement in symptoms and biochemical parameters.
Interpretation:
This case highlights the importance of considering concurrent hereditary phosphate metabolic disorders and bone dysplasias in patients with hypophosphatemia and complex skeletal abnormalities, which may influence management strategies.
Limitations:
- Limited number of similar cases reported in literature.
- Further studies are needed to understand the mechanisms behind the combination of XLH and FD, including long-term follow-up.
Conclusion:
This case enriches the clinical understanding of rare bone disorders and underscores the need for comprehensive evaluations and genetic testing in similar patients.
