Case Report: A case of x-linked hypophosphatemic rickets complicated with polyostotic fibrous dysplasia caused by PHEX gene mutation and literature review

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  • 1

    A 60-year-old male patient was diagnosed with X-linked hypophosphatemic rickets due to a PHEX gene mutation and polyostotic fibrous dysplasia.

  • 2

    The patient exhibited severe skeletal deformities, recurrent fractures, and persistent hypophosphatemia, with significant clinical and imaging findings.

  • 3

    Genetic analysis revealed a missense mutation in the PHEX gene, classified as 'Likely Pathogenic' according to ACMG guidelines.

  • 4

    Treatment with oral phosphate and calcitriol led to normalization of serum phosphorus levels and relief of bone pain symptoms.

  • 5

    This case highlights the need for comprehensive evaluation in patients with hypophosphatemia and complex skeletal abnormalities.

Original Source(s)

Case Report: A case of x-linked hypophosphatemic rickets complicated with polyostotic fibrous dysplasia caused by PHEX gene mutation and literature review

  • by Shuijin Huang, Anhua Lin, Na Zhang, Wenjing He, Yanan Huo, Chenxiu Wang

  • March 18, 2026

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