Orthopaedics and Trauma最新文献_第2页

CME questions on Rare Bone Diseases CME关于罕见骨病的问题

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.1016/j.mporth.2026.07.014

引用次数: 0

Multiple hereditary exostosis and Ollier's disease: how to tell the difference and next steps 多发性遗传性外生性增生和奥利氏病：如何区分和下一步

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.006

Muhammad Kassim Javaid

{"title":"Multiple hereditary exostosis and Ollier's disease: how to tell the difference and next steps","authors":"Muhammad Kassim Javaid","doi":"10.1016/j.mporth.2026.07.006","DOIUrl":"10.1016/j.mporth.2026.07.006","url":null,"abstract":"<div><div>Both hereditary multiple exostosis (HME) and Ollier's disease (OD) present with focal bony expansions. However, they have distinct aetiologies and prognosis. HME causes multiple osteochondromas that are exophytic growths outside of the bone, typically around the metaphysis and diaphysis and affecting particularly the fibular and ulna more than the tibia and radius. In contrast, OD causes multiple enchondromas that are expansile bony masses in the diaphysis of the limbs and hand bones. Both conditions tend to spare the skull, are asymmetric and can lead to significant deformity. OD can lead to shortened deformed bones with gross local swelling. HME can cause a Madelung deformity of the wrist and short stature. Both present during childhood. The major difference is in the risk of malignancy. The risk of skeletal malignancy is much higher in OD, and patients with OD also have increased risk of other cancers such as of the ovary and liver. In the absence of targeted medical therapies, surgical treatment is focused on removing lesions that, if left, have a high potential for functional loss along with robust surveillance for both local complications and malignant transformation.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 291-296"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multiple epiphyseal dysplasia and related disorders 多发性骨骺发育不良及相关疾病

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.007

Paul Wordsworth

{"title":"Multiple epiphyseal dysplasia and related disorders","authors":"Paul Wordsworth","doi":"10.1016/j.mporth.2026.07.007","DOIUrl":"10.1016/j.mporth.2026.07.007","url":null,"abstract":"<div><div>Genetic developmental disorders of the skeleton are individually rare but together constitute an important area of orthopaedic practice. The multiple epiphyseal dysplasias represent a subgroup of these conditions in which endochondral ossification is disrupted by defects that are primarily in cartilage metabolism in the developing skeleton. The ends of the tubular bones (epiphyses) and articular cartilage are particularly affected; this is manifest variably as short stature (sometimes disproportionate), abnormal joint structure, angular deformities of the joints and long bones, and premature degenerative arthritis. The genes responsible for most of these conditions have been identified in the past 40 years but current medical treatments are still largely limited to providing symptomatic relief. In childhood, orthopaedic intervention is sometimes required to correct major structural abnormalities of the joints or for limb realignment. Premature osteoarthritis is a common consequence of many of these disorders and joint replacement surgery (particularly hips but also knees) is quite commonly required in early adult life for those with the more severe variants of these conditions. This review provides a framework for distinguishing the various forms of multiple epiphyseal dysplasia, their underlying causes, and the principles of medical and surgical treatment.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 297-306"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Editorial: Introduction to the Rare Bone Diseases special edition 社论：罕见骨病特别版简介

Orthopaedics and Trauma Pub Date : 2026-10-01 DOI: 10.1016/j.mporth.2026.07.015

引用次数: 0

Tumour-induced osteomalacia: a review of pathophysiology, diagnosis, assessment and management 肿瘤诱导的骨软化症：病理生理学、诊断、评估和治疗的综述

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.003

Tsz Ho Shum, Jonathan Stevenson, Gavin PR Clunie

{"title":"Tumour-induced osteomalacia: a review of pathophysiology, diagnosis, assessment and management","authors":"Tsz Ho Shum, Jonathan Stevenson, Gavin PR Clunie","doi":"10.1016/j.mporth.2026.07.003","DOIUrl":"10.1016/j.mporth.2026.07.003","url":null,"abstract":"<div><div>Tumour-induced osteomalacia (TIO) is a rare, acquired paraneoplastic syndrome resulting from the autonomous secretion of the hormone fibroblast growth factor 23 (FGF23), typically from small, indolent phosphaturic-inducing mesenchymal tumours (PMTs). This hormonal excess leads to renal phosphate wasting and defective skeletal mineralization (osteomalacia). The clinical phenotype depends on skeletal maturity, manifesting as tumour-associated hypophosphataemic rickets in children and progressive osteomalacia and myopathy in adults. Due to the insidious clinical presentation, the rarity of the condition, a requirement for both complex biochemical interpretation and advanced functional imaging, diagnostic delay is well-recognized, often spanning years and causing considerable general, and sometimes irreversible, skeletal morbidity. This brief review summarizes current knowledge and advances in the management of TIO. We provide a diagnostic framework to guide clinicians, including orthopaedic specialists, from initial biochemical suspicion to tumour localization, and outline treatment strategies including surgical resection and monoclonal antibody therapy.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 270-278"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fibrous dysplasia/McCune Albright syndrome 纤维发育不良/McCune - Albright综合征

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-25 DOI: 10.1016/j.mporth.2026.07.004

Muhammad Kassim Javaid

引用次数: 0

Skeletal dysplasias and rare bone disorders: a template for assessment and management 骨骼发育不良和罕见骨疾病：评估和管理的模板

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.010

Sophie McGrann, Laura J. Clifton, Breanna Winger, Stephen Giles

{"title":"Skeletal dysplasias and rare bone disorders: a template for assessment and management","authors":"Sophie McGrann, Laura J. Clifton, Breanna Winger, Stephen Giles","doi":"10.1016/j.mporth.2026.07.010","DOIUrl":"10.1016/j.mporth.2026.07.010","url":null,"abstract":"<div><div>Rare bone disorders are just that, rare. Despite this fact, patients with these conditions are a relatively popular inclusion in orthopaedic clinical examinations. This paper aims to elucidate several of these conditions to improve the potential examination candidates' knowledge of their presentation, clinical examination findings, pathology and importantly, up to date principles of management of these conditions in the UK. This article will take the prospective candidate through the approach for a clinical examination, principles of management of skeletal dysplasias in UK practice, followed by more in depth discussion of multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita and tarda, achondroplasia, pseudoachondroplasia, Ollier's disease, multiple hereditary exostosis, osteopetrosis, hypophosphatasia, fibrous dysplasia, osteogenesis imperfecta, cleidocranial dysplasia, X-linked hypophosphataemia, Langerhan's cell hystiocytosis and chronic non-bacterial osteomyelitis/chronic recurrent multifocal osteomyelitis. This work includes clinical photographs and radiographs (published with permission) to illustrate some of the key clinical and radiological findings of these conditions.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 324-336"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Answers to the CME questions on Principles of Orthopaedics 关于骨科原理的CME问题解答

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.1016/j.mporth.2026.07.013

引用次数: 0

Tumour-induced osteomalacia: a review of pathophysiology, diagnosis, assessment and management 肿瘤诱导的骨软化症：病理生理学、诊断、评估和治疗的综述

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.003

Tsz Ho Shum, Jonathan Stevenson, Gavin PR Clunie

{"title":"Tumour-induced osteomalacia: a review of pathophysiology, diagnosis, assessment and management","authors":"Tsz Ho Shum, Jonathan Stevenson, Gavin PR Clunie","doi":"10.1016/j.mporth.2026.07.003","DOIUrl":"10.1016/j.mporth.2026.07.003","url":null,"abstract":"<div><div>Tumour-induced osteomalacia (TIO) is a rare, acquired paraneoplastic syndrome resulting from the autonomous secretion of the hormone fibroblast growth factor 23 (FGF23), typically from small, indolent phosphaturic-inducing mesenchymal tumours (PMTs). This hormonal excess leads to renal phosphate wasting and defective skeletal mineralization (osteomalacia). The clinical phenotype depends on skeletal maturity, manifesting as tumour-associated hypophosphataemic rickets in children and progressive osteomalacia and myopathy in adults. Due to the insidious clinical presentation, the rarity of the condition, a requirement for both complex biochemical interpretation and advanced functional imaging, diagnostic delay is well-recognized, often spanning years and causing considerable general, and sometimes irreversible, skeletal morbidity. This brief review summarizes current knowledge and advances in the management of TIO. We provide a diagnostic framework to guide clinicians, including orthopaedic specialists, from initial biochemical suspicion to tumour localization, and outline treatment strategies including surgical resection and monoclonal antibody therapy.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 270-278"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Answers to the CME questions on Principles of Orthopaedics 关于骨科原理的CME问题解答

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.1016/j.mporth.2026.07.013

引用次数: 0