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[Multiple cartilagenous exostoses]

A Karbowski1, A Eckardt, J D Rompe

  • 1Orthopädische Klinik und Poliklinik, Johannes-Gutenberg-Universität Mainz.

Der Orthopade
|February 1, 1995
PubMed
Summary
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Hereditary multiple exostosis (HME) is an autosomal dominant disease causing bone deformities. Surgical removal of painful growths is common, but requires careful planning and monitoring for rare complications like cancer.

Area of Science:

  • Orthopedic Surgery
  • Genetics
  • Pediatric Orthopedics

Background:

  • Hereditary multiple exostosis (HME) is an autosomal dominant genetic disorder.
  • It results from peripheral growth plate dysplasia, leading to significant skeletal abnormalities.
  • HME exhibits high variability in clinical presentation among affected individuals.

Purpose of the Study:

  • To review key aspects of hereditary multiple exostosis (HME) pertinent to orthopedic surgeons.
  • To highlight the management challenges and potential complications of HME.
  • To emphasize the importance of precise surgical planning and follow-up for HME patients.

Main Methods:

  • This is a review article, synthesizing current knowledge on HME.
  • Information is drawn from existing literature relevant to orthopedic practice.

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  • Focus is on clinical manifestations, surgical treatment, and complications.

    • Main Results:

    • Exostoses can cause severe secondary deformities and joint mobility reduction, particularly in the forearm, knee, and ankle.
    • Surgical excision of symptomatic exostoses is the primary treatment modality.
    • Malignant transformation to chondrosarcoma occurs in nearly 1% of cases and requires monitoring.
    • Cervical cord compression is a rare but serious complication.

    Conclusions:

    • Effective management of HME necessitates meticulous preoperative assessment, judicious treatment selection, and diligent postoperative care.
    • Orthopedic surgeons must be vigilant for potential complications, including malignant transformation and neurological compromise.
    • Long-term follow-up is crucial for optimizing outcomes in patients with hereditary multiple exostosis.