Hereditary multiple exostoses: an educational review.

Abstract

Hereditary multiple exostoses (HME), an autosomal dominant disorder with an incidence of 1:50,000 to 1:100,000, is characterised by the formation of multiple osteochondromas arising from the metaphyses of long and flat bones. These osteochondromas often present as painless palpable lumps, though some cases are symptomatic due to mechanical compression or bursitis. Diagnosis of HME is typically clinical and radiological. WHO diagnostic criteria include ≥ 2 radiological osteochondromas in the juxta-epiphyseal region of the long bones. Genetic testing is reserved for ambiguous cases. HME is associated with mutations in the EXT-1 (exostosin-1) and EXT-2 (exostosin-2) genes. Imaging techniques, including conventional radiography, CT, MRI, ultrasound, and nuclear medicine, play a crucial role in diagnosing and assessing HME, with each modality offering distinct advantages in visualising the lesions and associated complications. Common complications include skeletal deformities, fractures, bursitis, as well as neural and vascular abnormalities. Notably, there is a 10% risk of malignant transformation into secondary chondrosarcoma in HME patients, compared to only a 1% risk in those with solitary osteochondromas. Malignant transformation should be suspected in patients with new-onset pain or specific imaging features in an osteochondroma, such as growth of de cartilaginous cap. In these cases, an MRI should be performed to assess the cartilage cap thickness. Advances in imaging techniques and genetic understanding have improved the management and prognosis of HME. Follow-up is essential to rule out malignant transformation. This review summarises current knowledge on the clinical presentation, pathogenesis, imaging characteristics, complications, and treatment of HME. CRITICAL RELEVANCE STATEMENT: HME is a disorder characterised by the formation of osteochondromas arising from long and flat bones. Multi-modality imaging characteristics, clinical presentation, complications, and treatment are highlighted to familiarise the readers with this entity and offer optimal patient care. KEY POINTS: HME is characterised by multiple osteochondromas on long and flat bones. Imaging for HME includes radiography, CT, MRI, ultrasound, and nuclear medicine studies. Complications include non-malignant complications, such as bone deformities and malignant transformation. Cartilage-cap measurement with MRI or US is key to exclude malignancy. Follow-up is essential to rule out malignant transformation of the osteochondromas.