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Multiple Hereditary Exostoses
Behrang Amini, MD, PhD; B. J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        TERMINOLOGY

        • Abbreviations

          • Multiple hereditary exostoses (MHE)
        • Synonyms

          • Multiple osteochondromas, hereditary multiple exostoses
          • Older/not recommended terms: hereditary osteochondromatosis, hereditary deforming osteochondromatosis, hereditary chondrodysplasia, hereditary multiple osteochondromas, familial osteochondromatosis, diaphyseal aclasis, metaphyseal aclasis
        • Definitions

          • Autosomal dominant condition of multiple, benign, cartilage-capped neoplasms at bone surface caused by mutations in EXT1 or EXT2 gene
            • Diagnosis requires at least 2 osteochondromas of juxtaepiphyseal region of long bones, positive family history, &/or proven germline mutation in 1 of EXT genes

        IMAGING

        • General Features

          • Imaging Recommendations

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Nuclear Medicine Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        Selected References

                                        1. Wininger AE et al: The incidence of vertebral exostoses in multiple hereditary exostoses and recommendations for spinal screening. J Pediatr Orthop. 41(3):e226-31, 2021
                                        2. Bovée JVMG et al: Multiple osteochondromas. In Fletcher CDM et al: WHO Classification of Tumours: Tumours of Soft Tissue and Bone. IARC Press. 517-9, 2020
                                        3. Jurik AG et al: Whole-body MRI in assessing malignant transformation in multiple hereditary exostoses and enchondromatosis: audit results and literature review. Skeletal Radiol. 49(1):115-24, 2020
                                        4. Jackson TJ et al: Is routine spine MRI necessary in skeletally immature patients with MHE? Identifying patients at risk for spinal osteochondromas. J Pediatr Orthop. 39(2):e147-52, 2019
                                        5. Fei L et al: Chondrosarcoma transformation in hereditary multiple exostoses: a systematic review and clinical and cost-effectiveness of a proposed screening model. J Bone Oncol. 13:114-22, 2018
                                        6. Kwee RM et al: Multidetector computed tomography in the evaluation of hereditary multiple exostoses. Eur J Radiol. 85(2):383-91, 2016
                                        7. Ali S et al: Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics. Pediatr Radiol. 45(12):1856-63, 2015
                                        8. Czajka CM et al: What is the proportion of patients with multiple hereditary exostoses who undergo malignant degeneration? Clin Orthop Relat Res. 473(7):2355-61, 2015
                                        9. Sonne-Holm E et al: Multiple cartilaginous exostoses and development of chondrosarcomas--a systematic review. Dan Med J. 61(9):A4895, 2014
                                        10. Yoong P et al: Multiple hereditary exostoses and ischiofemoral impingement: a case-control study. Skeletal Radiol. 43(9):1225-30, 2014
                                        11. Dutoit JC et al: Value of whole body MRI and dynamic contrast enhanced MRI in the diagnosis, follow-up and evaluation of disease activity and extent in multiple myeloma. Eur J Radiol. 82(9):1444-52, 2013
                                        12. Douis H et al: Can MR imaging challenge the commonly accepted theory of the pathogenesis of solitary enchondroma of long bone? Skeletal Radiol. 41(12):1537-42, 2012
                                        13. Viala P et al: Bilateral ischiofemoral impingement in a patient with hereditary multiple exostoses. Skeletal Radiol. 41(12):1637-40, 2012
                                        14. Bernard SA et al: Improved differentiation of benign osteochondromas from secondary chondrosarcomas with standardized measurement of cartilage cap at CT and MR imaging. Radiology. 255(3):857-65, 2010
                                        15. El-Fiky TA et al: Hereditary multiple exostoses of the hip. J Orthop Surg (Hong Kong). 17(2):161-5, 2009
                                        16. Roach JW et al: Involvement of the spine in patients with multiple hereditary exostoses. J Bone Joint Surg Am. 91(8):1942-8, 2009
                                        17. Sandell LJ: Multiple hereditary exostosis, EXT genes, and skeletal development. J Bone Joint Surg Am. 91 Suppl 4:58-62, 2009
                                        18. Jäger M et al: Clinical outcome and genotype in patients with hereditary multiple exostoses. J Orthop Res. 25(12):1541-51, 2007
                                        19. Murphey MD et al: Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. Radiographics. 20(5):1407-34, 2000
                                        20. Schmale GA et al: The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 76(7):986-92, 1994
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Clinical Issues

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Multiple hereditary exostoses (MHE)
                                              • Synonyms

                                                • Multiple osteochondromas, hereditary multiple exostoses
                                                • Older/not recommended terms: hereditary osteochondromatosis, hereditary deforming osteochondromatosis, hereditary chondrodysplasia, hereditary multiple osteochondromas, familial osteochondromatosis, diaphyseal aclasis, metaphyseal aclasis
                                              • Definitions

                                                • Autosomal dominant condition of multiple, benign, cartilage-capped neoplasms at bone surface caused by mutations in EXT1 or EXT2 gene
                                                  • Diagnosis requires at least 2 osteochondromas of juxtaepiphyseal region of long bones, positive family history, &/or proven germline mutation in 1 of EXT genes

                                              IMAGING

                                              • General Features

                                                • Imaging Recommendations

                                                  • Radiographic Findings

                                                    • CT Findings

                                                      • MR Findings

                                                        • Ultrasonographic Findings

                                                          • Nuclear Medicine Findings

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Gross Pathologic & Surgical Features

                                                                  • Microscopic Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Consider

                                                                              Selected References

                                                                              1. Wininger AE et al: The incidence of vertebral exostoses in multiple hereditary exostoses and recommendations for spinal screening. J Pediatr Orthop. 41(3):e226-31, 2021
                                                                              2. Bovée JVMG et al: Multiple osteochondromas. In Fletcher CDM et al: WHO Classification of Tumours: Tumours of Soft Tissue and Bone. IARC Press. 517-9, 2020
                                                                              3. Jurik AG et al: Whole-body MRI in assessing malignant transformation in multiple hereditary exostoses and enchondromatosis: audit results and literature review. Skeletal Radiol. 49(1):115-24, 2020
                                                                              4. Jackson TJ et al: Is routine spine MRI necessary in skeletally immature patients with MHE? Identifying patients at risk for spinal osteochondromas. J Pediatr Orthop. 39(2):e147-52, 2019
                                                                              5. Fei L et al: Chondrosarcoma transformation in hereditary multiple exostoses: a systematic review and clinical and cost-effectiveness of a proposed screening model. J Bone Oncol. 13:114-22, 2018
                                                                              6. Kwee RM et al: Multidetector computed tomography in the evaluation of hereditary multiple exostoses. Eur J Radiol. 85(2):383-91, 2016
                                                                              7. Ali S et al: Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics. Pediatr Radiol. 45(12):1856-63, 2015
                                                                              8. Czajka CM et al: What is the proportion of patients with multiple hereditary exostoses who undergo malignant degeneration? Clin Orthop Relat Res. 473(7):2355-61, 2015
                                                                              9. Sonne-Holm E et al: Multiple cartilaginous exostoses and development of chondrosarcomas--a systematic review. Dan Med J. 61(9):A4895, 2014
                                                                              10. Yoong P et al: Multiple hereditary exostoses and ischiofemoral impingement: a case-control study. Skeletal Radiol. 43(9):1225-30, 2014
                                                                              11. Dutoit JC et al: Value of whole body MRI and dynamic contrast enhanced MRI in the diagnosis, follow-up and evaluation of disease activity and extent in multiple myeloma. Eur J Radiol. 82(9):1444-52, 2013
                                                                              12. Douis H et al: Can MR imaging challenge the commonly accepted theory of the pathogenesis of solitary enchondroma of long bone? Skeletal Radiol. 41(12):1537-42, 2012
                                                                              13. Viala P et al: Bilateral ischiofemoral impingement in a patient with hereditary multiple exostoses. Skeletal Radiol. 41(12):1637-40, 2012
                                                                              14. Bernard SA et al: Improved differentiation of benign osteochondromas from secondary chondrosarcomas with standardized measurement of cartilage cap at CT and MR imaging. Radiology. 255(3):857-65, 2010
                                                                              15. El-Fiky TA et al: Hereditary multiple exostoses of the hip. J Orthop Surg (Hong Kong). 17(2):161-5, 2009
                                                                              16. Roach JW et al: Involvement of the spine in patients with multiple hereditary exostoses. J Bone Joint Surg Am. 91(8):1942-8, 2009
                                                                              17. Sandell LJ: Multiple hereditary exostosis, EXT genes, and skeletal development. J Bone Joint Surg Am. 91 Suppl 4:58-62, 2009
                                                                              18. Jäger M et al: Clinical outcome and genotype in patients with hereditary multiple exostoses. J Orthop Res. 25(12):1541-51, 2007
                                                                              19. Murphey MD et al: Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. Radiographics. 20(5):1407-34, 2000
                                                                              20. Schmale GA et al: The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 76(7):986-92, 1994