Radiology Case Reports (Aug 2024)

Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma

  • Federica Masino, MD,
  • Manuela Montatore, MD,
  • Rossella Carpentiere, MD,
  • Marina Balbino, MD,
  • Rossella Gifuni, MD,
  • Giacomo Fascia, MD,
  • Giuseppe Guglielmi, MD

Journal volume & issue
Vol. 19, no. 8
pp. 2943 – 2949

Abstract

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We present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh. Hereditary multiple exostoses is a rare genetic disorder characterized by multiple osteochondromas. Malignant transformation to chondrosarcoma of a pre-existing osteochondroma is a possible significant manifestation of this hereditary syndrome. Imaging modalities such as X-ray, Ultrasound, and computed tomography play a crucial role in the diagnosis and management of these patients, as described in this case.

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