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Article

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

Frontiers in endocrinology - 1 Jan 2026

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

Abstract excerpt

We report a rare case of a 60-year-old male patient with X-linked hypophosphatemic rickets (XLH) caused by a PHEX gene mutation complicated with polyostotic fibrous dysplasia (FD). The patient presented with bilateral lower limb deformity for 59 years and recurrent fractures for 30 years. Physical examination revealed short stature (113 cm), multiple skeletal deformities, and limited joint mobility. Laboratory...

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Share to Familial Hypophosphatemic Rickets
Share to Fibrous Dysplasia, Polyostotic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to PHEX Phosphate Regulating Neutral Endopeptidase

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Identifiers

PMID: 41928886
DOI: 10.3389/fendo.2026.1781382
PMCID: PMC13038556

Genes

PHEX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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