{"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}
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.
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)