{"title":"家族遗传性多发性骨质疏松症胸椎棘突内压迫性骨软骨瘤的手术方法和注意事项","authors":"Corneliu Toader, Antonio-Daniel Corlatescu, Nicolaie Dobrin, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Alexandru Vlad Ciurea","doi":"10.3390/diseases12070165","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood. Moreover, current studies show a small prevalence in the male population. The osteochondromas usually occur at sites with great bone activity and turnover, such as the diaphysis or metaphyseal plates (especially in children) of long bones. Their appearance in short bones (such as vertebrae) is very rare.</p><p><strong>Case presentation: </strong>We present a case of familial HME in a 53-year-old female patient with a very uncommon clinical description of the disease. The patient presented at our hospital with Frankel D-type paraparesis, with multiple osteochondromas (located at the right humerus, bilateral femurs, right tibia, and hip joints, besides the numerous ones over the spinal column) and urinary incontinence. She was suffering from bilateral coxarthrosis and gonarthrosis, which limited severely the range of her movements. An early menopause status was brought into consideration by the patient, being installed circa 15 years before, at 38 years old. She was currently in treatment with bisphosphonates for her concomitant osteoporosis.</p><p><strong>Conclusions: </strong>Despite the relatively rare nature of the disease, it may be an important concern for the patient's quality of life. Intraspinal processes may trigger paraparesis or other neurological statuses, which may require a surgical treatment. The nature of the lesions is usually benign and do not require further radio- or chemotherapy.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":2.9000,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11276447/pdf/","citationCount":"0","resultStr":"{\"title\":\"Surgical Approach and Considerations for Compressive Thoracic Intraspinal Osteochondroma in Familial Hereditary Multiple Exostosis.\",\"authors\":\"Corneliu Toader, Antonio-Daniel Corlatescu, Nicolaie Dobrin, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Alexandru Vlad Ciurea\",\"doi\":\"10.3390/diseases12070165\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood. Moreover, current studies show a small prevalence in the male population. The osteochondromas usually occur at sites with great bone activity and turnover, such as the diaphysis or metaphyseal plates (especially in children) of long bones. Their appearance in short bones (such as vertebrae) is very rare.</p><p><strong>Case presentation: </strong>We present a case of familial HME in a 53-year-old female patient with a very uncommon clinical description of the disease. The patient presented at our hospital with Frankel D-type paraparesis, with multiple osteochondromas (located at the right humerus, bilateral femurs, right tibia, and hip joints, besides the numerous ones over the spinal column) and urinary incontinence. She was suffering from bilateral coxarthrosis and gonarthrosis, which limited severely the range of her movements. An early menopause status was brought into consideration by the patient, being installed circa 15 years before, at 38 years old. She was currently in treatment with bisphosphonates for her concomitant osteoporosis.</p><p><strong>Conclusions: </strong>Despite the relatively rare nature of the disease, it may be an important concern for the patient's quality of life. Intraspinal processes may trigger paraparesis or other neurological statuses, which may require a surgical treatment. The nature of the lesions is usually benign and do not require further radio- or chemotherapy.</p>\",\"PeriodicalId\":72832,\"journal\":{\"name\":\"Diseases (Basel, Switzerland)\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2024-07-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11276447/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diseases (Basel, Switzerland)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3390/diseases12070165\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diseases (Basel, Switzerland)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/diseases12070165","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
引用次数: 0
摘要
导言遗传性多发性骨软骨病或遗传性多发性骨软骨瘤是一种非常罕见的临床病症。这些病变通常发生在儿童群体中,直到成年后才会被发现。此外,目前的研究显示,男性发病率较低。骨软骨瘤通常发生在骨活动和骨代谢旺盛的部位,如长骨的干骺端或骺板(尤其是儿童)。出现在短骨(如椎骨)的情况非常罕见:本病例为一例家族性 HME,患者为 53 岁女性,临床表现非常罕见。患者因弗兰克尔 D 型截瘫、多发性骨软骨瘤(位于右侧肱骨、双侧股骨、右侧胫骨和髋关节,此外脊柱上也有多处骨软骨瘤)和尿失禁到我院就诊。她患有双侧髋关节和膝关节病,严重限制了她的活动范围。患者考虑到自己更年期提前,大约在 15 年前,38 岁时就进入更年期。目前,她正在接受双膦酸盐治疗,以治疗伴随的骨质疏松症:结论:尽管这种疾病相对罕见,但它可能是影响患者生活质量的一个重要因素。椎管内病变可能引发偏瘫或其他神经系统状况,可能需要手术治疗。病变的性质通常是良性的,不需要进一步的放疗或化疗。
Surgical Approach and Considerations for Compressive Thoracic Intraspinal Osteochondroma in Familial Hereditary Multiple Exostosis.
Introduction: Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood. Moreover, current studies show a small prevalence in the male population. The osteochondromas usually occur at sites with great bone activity and turnover, such as the diaphysis or metaphyseal plates (especially in children) of long bones. Their appearance in short bones (such as vertebrae) is very rare.
Case presentation: We present a case of familial HME in a 53-year-old female patient with a very uncommon clinical description of the disease. The patient presented at our hospital with Frankel D-type paraparesis, with multiple osteochondromas (located at the right humerus, bilateral femurs, right tibia, and hip joints, besides the numerous ones over the spinal column) and urinary incontinence. She was suffering from bilateral coxarthrosis and gonarthrosis, which limited severely the range of her movements. An early menopause status was brought into consideration by the patient, being installed circa 15 years before, at 38 years old. She was currently in treatment with bisphosphonates for her concomitant osteoporosis.
Conclusions: Despite the relatively rare nature of the disease, it may be an important concern for the patient's quality of life. Intraspinal processes may trigger paraparesis or other neurological statuses, which may require a surgical treatment. The nature of the lesions is usually benign and do not require further radio- or chemotherapy.