# Surgical management strategies and clinical outcomes of cutaneous skeletal hypophosphatemia syndrome: a case series

**Authors:** Yi Qiao, Jin Dai, Ting Zhuang, Yicong Liu, Xiuzhi Ren

PMC · DOI: 10.3389/fped.2025.1742471 · Frontiers in Pediatrics · 2026-01-20

## TL;DR

This paper presents surgical strategies and outcomes for treating a rare condition called cutaneous skeletal hypophosphatemia syndrome.

## Contribution

The study provides a case series demonstrating the effectiveness of surgical correction in managing limb deformities in CSHS patients.

## Key findings

- All three patients had multiple skeletal deformities and cutaneous melanocytic nevi.
- Corrective osteotomy with internal fixation significantly improved mechanical alignment and function.
- Surgery is a critical part of multidisciplinary management for CSHS.

## Abstract

To evaluate the surgical treatment strategies and clinical efficacy in patients with cutaneous skeletal hypophosphatemia syndrome (CSHS).

A retrospective analysis was conducted on three cases of CSHS treated at our institution. Clinical data included medical history, physical examination, laboratory tests (hypophosphatemia-related biomarkers and genetic testing), and imaging studies (x-ray and CT). Pre- and postoperative limb deformity correction and functional recovery were assessed.

All three patients presented with multiple skeletal deformities and cutaneous melanocytic nevi. Laboratory tests confirmed persistent hypophosphatemia, while imaging revealed widespread osseous abnormalities and long-bone bowing deformities. Following corrective osteotomy with internal fixation, significant improvement in mechanical alignment was achieved.

Surgical intervention can effectively correct limb deformities, restore biomechanical alignment, and improve function in patients with CSHS. Hence, it represents a critical component of multidisciplinary management.

## Full-text entities

- **Diseases:** deformity (MESH:D009140), osseous abnormalities (MESH:D010001), long-bone bowing deformities (MESH:C537966), CSHS (MESH:D017674), melanocytic nevi (MESH:D009508)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12864393/full.md

## References

23 references — full list in the complete paper: https://tomesphere.com/paper/PMC12864393/full.md

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Source: https://tomesphere.com/paper/PMC12864393