# Hereditary multiple osteochondromas in a child: a case report and discussion of postoperative complication management

**Authors:** Haiting Jia, Yuting Wang, Tao Liu

PMC · DOI: 10.3389/fsurg.2025.1689110 · Frontiers in Surgery · 2025-11-07

## TL;DR

A child with hereditary multiple osteochondromas had a successful surgery but faced a postoperative femoral artery rupture, highlighting the need for careful surgical techniques.

## Contribution

This case report highlights the management of a rare postoperative complication in hereditary multiple exostoses.

## Key findings

- The patient had a heterozygous variant in the EXT1 gene c.1722+1G>A.
- Postoperative bleeding led to the discovery of a femoral artery rupture, which was surgically repaired.
- Meticulous surgical technique is essential to prevent vascular injuries in such cases.

## Abstract

The pathogenesis of hereditary multiple exostoses is mainly related to genetic variants and often requires surgical resection when it causes clinical symptoms. This case report describes a variant in the EXT1 gene and the management of postoperative femoral artery rupture.

We present the case of an 11-year-old boy who developed hereditary multiple exostoses. The patient presented with multiple bone swellings throughout his body and difficulty squatting due to a swelling in his right thigh. Genetic testing showed that the child had a heterozygous variant in the EXT1 gene c.1722+1G>A (p.?). We performed a resection of the osteochondroma of the right femur; however, after the surgery, there was persistent bleeding from the wound. Surgical exploration revealed a rupture of the right femoral artery, which we repaired.

The diagnosis of hereditary multiple exostoses relies on a clinical examination and genetic testing. Surgical resection is indicated for symptomatic cases with functional impairments. To prevent vascular injuries such as femoral artery rupture, meticulous surgical technique is essential, including thorough smoothing of the resected bone surface and a careful intraoperative assessment of the adjacent neurovascular structures. In cases of postoperative bleeding or suspected pseudoaneurysm, prompt imaging and surgical exploration are critical for timely vascular repair.

## Linked entities

- **Genes:** EXT1 (exostosin glycosyltransferase 1) [NCBI Gene 2131]
- **Diseases:** hereditary multiple exostoses (MONDO:0005508)

## Full-text entities

- **Genes:** EXT1 (exostosin glycosyltransferase 1) [NCBI Gene 2131] {aka EXT, LGCR, LGS, TRPS2, TTV}
- **Diseases:** swelling (MESH:D004487), femoral artery rupture (MESH:D012421), vascular injuries (MESH:D057772), bleeding (MESH:D006470), osteochondroma (MESH:D015831), hereditary multiple exostoses (MESH:D005097), pseudoaneurysm (MESH:D017541)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.1722+1G>A

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12634653/full.md

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12634653/full.md

## References

13 references — full list in the complete paper: https://tomesphere.com/paper/PMC12634653/full.md

---
Source: https://tomesphere.com/paper/PMC12634653