一例罕见的女性遗传性多发性骨赘皮病例

IF 0.8 4区 医学 Q4 NURSING Orthopaedic Nursing Pub Date : 2024-03-01 DOI:10.1097/NOR.0000000000001018
Ranya Alawy Ghamri
{"title":"一例罕见的女性遗传性多发性骨赘皮病例","authors":"Ranya Alawy Ghamri","doi":"10.1097/NOR.0000000000001018","DOIUrl":null,"url":null,"abstract":"<p><p>Hereditary multiple exostosis (HME) is a rare genetic disorder characterized by multiple bony spurs or lumps, commonly affecting the long bones. This case report exposes the clinical presentation, diagnosis, and management of HME in a 28-year-old female nurse, who initially presented with persistent bilateral knee pain. After extensive evaluation involving orthopaedic and oncology specialists, the diagnosis of HME was made. Despite the discovery of multiple exostoses, the patient reported improvement following a tailored physiotherapy regimen. This case study underscores the complexity and broad spectrum of symptoms associated with HME. It emphasizes the importance of a multidisciplinary approach in diagnosing and managing such conditions, which can lead to better patient outcomes and an improved quality of life. By shedding light on the role of physiotherapy in managing rare genetic disorders such as HME, this case report contributes to the growing body of literature exploring noninvasive treatment options for these diseases.</p>","PeriodicalId":56102,"journal":{"name":"Orthopaedic Nursing","volume":"43 2","pages":"119-122"},"PeriodicalIF":0.8000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11008449/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Rare Case of Hereditary Multiple Exostoses in a Woman.\",\"authors\":\"Ranya Alawy Ghamri\",\"doi\":\"10.1097/NOR.0000000000001018\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Hereditary multiple exostosis (HME) is a rare genetic disorder characterized by multiple bony spurs or lumps, commonly affecting the long bones. This case report exposes the clinical presentation, diagnosis, and management of HME in a 28-year-old female nurse, who initially presented with persistent bilateral knee pain. After extensive evaluation involving orthopaedic and oncology specialists, the diagnosis of HME was made. Despite the discovery of multiple exostoses, the patient reported improvement following a tailored physiotherapy regimen. This case study underscores the complexity and broad spectrum of symptoms associated with HME. It emphasizes the importance of a multidisciplinary approach in diagnosing and managing such conditions, which can lead to better patient outcomes and an improved quality of life. By shedding light on the role of physiotherapy in managing rare genetic disorders such as HME, this case report contributes to the growing body of literature exploring noninvasive treatment options for these diseases.</p>\",\"PeriodicalId\":56102,\"journal\":{\"name\":\"Orthopaedic Nursing\",\"volume\":\"43 2\",\"pages\":\"119-122\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11008449/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Orthopaedic Nursing\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/NOR.0000000000001018\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"NURSING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Orthopaedic Nursing","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/NOR.0000000000001018","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"NURSING","Score":null,"Total":0}
引用次数: 0

摘要

遗传性多发性骨质疏松症(HME)是一种罕见的遗传性疾病,以多发性骨刺或骨块为特征,通常累及长骨。本病例报告揭示了一名 28 岁女护士 HME 的临床表现、诊断和处理方法,该患者最初表现为持续性双侧膝关节疼痛。在骨科和肿瘤科专家参与的广泛评估后,她被确诊为 HME。尽管发现了多发性外生骨赘,但在接受了量身定制的物理治疗后,患者的病情有所好转。本病例研究强调了 HME 相关症状的复杂性和广泛性。它强调了多学科方法在诊断和管理此类疾病中的重要性,这种方法可以改善患者的治疗效果,提高生活质量。本病例报告揭示了物理疗法在治疗 HME 等罕见遗传性疾病中的作用,为越来越多探讨此类疾病非侵入性治疗方案的文献做出了贡献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
A Rare Case of Hereditary Multiple Exostoses in a Woman.

Hereditary multiple exostosis (HME) is a rare genetic disorder characterized by multiple bony spurs or lumps, commonly affecting the long bones. This case report exposes the clinical presentation, diagnosis, and management of HME in a 28-year-old female nurse, who initially presented with persistent bilateral knee pain. After extensive evaluation involving orthopaedic and oncology specialists, the diagnosis of HME was made. Despite the discovery of multiple exostoses, the patient reported improvement following a tailored physiotherapy regimen. This case study underscores the complexity and broad spectrum of symptoms associated with HME. It emphasizes the importance of a multidisciplinary approach in diagnosing and managing such conditions, which can lead to better patient outcomes and an improved quality of life. By shedding light on the role of physiotherapy in managing rare genetic disorders such as HME, this case report contributes to the growing body of literature exploring noninvasive treatment options for these diseases.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Orthopaedic Nursing
Orthopaedic Nursing 医学-护理
CiteScore
0.60
自引率
14.30%
发文量
132
审稿时长
>12 weeks
期刊介绍: Orthopaedic Nursing is an international journal providing continuing education for orthopaedic nurses. Focusing on a wide variety of clinical settings - hospital unit, physician"s office, ambulatory care centers, emergency room, operating room, rehabilitation facility, community service programs, the client"s home, and others – Orthopaedic Nursing provides departmental sections on current events, organizational activities, research, product and drug information, and literature findings. Articles reflect a commitment to professional development and the nursing profession as well as clinical, administrative, academic, and research areas of the orthopaedic specialty. Official Journal of the National Association of Orthopaedic Nurses (NAON)
期刊最新文献
Accountability, Tidiness, and Flexibility. Description of a Nurse Practitioner-Led Orthogeriatric Model of Care: A Health Record Review. Efficacy of Mindfulness Exercises for Primary Osteoporosis Pain and Balance: A Systematic Review and Network Meta-Analysis. Keep Believing: Transform Through Change. NAON Annual CongressNAON Education Product Highlights.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1