An unusual example of hereditary multiple exostoses: a case report and review of the literature

• Published in: BMC musculoskeletal disorders Vol. 22; no. 1; p. 96
• Main Authors: Chilvers, Rebecca, Gallagher, James A, Jeffery, Nathan, Bond, Alistair P
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 21.01.2021; BioMed Central; BMC
• Subjects: Bone and Bones; Bone diseases; Bone Neoplasms - diagnostic imaging; Bones; Cartilage; Case Report; Case reports; Case studies; Diagnosis; Diagnostic Imaging; Diaphyseal aclasis; Dissection; Dysostosis; Enchondroma; Exostoses, Multiple Hereditary - diagnostic imaging; Hereditary multiple Exostoses; Humans; Literature reviews; Male; Medical imaging; Metachondromatosis; Middle Aged; Morbidity; Musculoskeletal diseases; Mutation; Osteochondroma; Osteochondroma - diagnostic imaging; Synostosis; Tumors; United Kingdom; Osteochondroma; Hereditary multiple Exostoses; Metachondromatosis; Diaphyseal aclasis; Enchondroma; Synostosis
• ISSN: 1471-2474; 1471-2474
• DOI: 10.1186/s12891-021-03967-6

Hereditary multiple exostoses (HME) is a rare skeletal disorder characterised by a widespread. distribution of osteochondromas originating from the metaphyses of long bones. This case study examines a 55-year-old male cadaver bequeathed to the University of Liverpool who suffered from HME, thus providing an exceptionally rare opportunity to examine the anatomical changes associated with this condition. Findings from imaging and dissection indicated that this was a severe case of HME in terms of the quantity and distribution of the osteochondromas and the number of synostoses present. In addition, the existence of enchondromas and the appearance of gaps within the trabeculae of affected bones make this a remarkable case. This study provides a comprehensive overview of the morbidity of the disease as well as adding to the growing evidence that diseases concerning benign cartilaginous tumours may be part of a spectrum rather than distinct entities.