Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma

Radiol Case Rep. 2024 May 3;19(8):2943-2949. doi: 10.1016/j.radcr.2024.04.012. eCollection 2024 Aug.

Abstract

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.

Keywords: Bone disorders; Chondrosarcoma; Diagnostic imaging; Exostosis; Hereditary multiple exostoses; Osteochondromas.

Publication types

  • Case Reports