Laura Ruzzini , Michaela V. Gonfiantini , Emanuela Asunis , Grazia M. Ubertini , Andrea Bartuli , Pierfrancesco Costici
{"title":"髓内钉治疗骨质疏松畸形及疼痛1例。","authors":"Laura Ruzzini , Michaela V. Gonfiantini , Emanuela Asunis , Grazia M. Ubertini , Andrea Bartuli , Pierfrancesco Costici","doi":"10.1016/j.ejmg.2025.105018","DOIUrl":null,"url":null,"abstract":"<div><div>Melorheostosis is a rare sclerosing bone dysplasia characterized by the thickening and irregular ossification of the affected bones. This disease can affect any bone in the skeletal system, with the long bones of the lower extremities being more frequently involved. Symptoms include pain, oedema, joint stiffness, muscle atrophy and bone deformity.</div><div>Management of this disease is challenging and not standardized. It depends on the symptoms, and it varies from physical therapy to pharmacological approach or surgery to correct limb deformities, muscle and tendon contractures and joint stiffness.</div><div>This case report presents the clinical management and treatment of a patient with lower limb deformities due to melorheostosis using retrograde intramedullary nailing of the femurs.</div><div>The procedure provided stability to the affected bones, resulting in correction of deformities and alleviation of lower limb pain, improving her quality of life.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"75 ","pages":"Article 105018"},"PeriodicalIF":1.6000,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Management of a case of melorheostosis deformity and pain with intramedullary nailing\",\"authors\":\"Laura Ruzzini , Michaela V. Gonfiantini , Emanuela Asunis , Grazia M. Ubertini , Andrea Bartuli , Pierfrancesco Costici\",\"doi\":\"10.1016/j.ejmg.2025.105018\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Melorheostosis is a rare sclerosing bone dysplasia characterized by the thickening and irregular ossification of the affected bones. This disease can affect any bone in the skeletal system, with the long bones of the lower extremities being more frequently involved. Symptoms include pain, oedema, joint stiffness, muscle atrophy and bone deformity.</div><div>Management of this disease is challenging and not standardized. It depends on the symptoms, and it varies from physical therapy to pharmacological approach or surgery to correct limb deformities, muscle and tendon contractures and joint stiffness.</div><div>This case report presents the clinical management and treatment of a patient with lower limb deformities due to melorheostosis using retrograde intramedullary nailing of the femurs.</div><div>The procedure provided stability to the affected bones, resulting in correction of deformities and alleviation of lower limb pain, improving her quality of life.</div></div>\",\"PeriodicalId\":11916,\"journal\":{\"name\":\"European journal of medical genetics\",\"volume\":\"75 \",\"pages\":\"Article 105018\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2025-05-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of medical genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1769721225000254\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of medical genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1769721225000254","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Management of a case of melorheostosis deformity and pain with intramedullary nailing
Melorheostosis is a rare sclerosing bone dysplasia characterized by the thickening and irregular ossification of the affected bones. This disease can affect any bone in the skeletal system, with the long bones of the lower extremities being more frequently involved. Symptoms include pain, oedema, joint stiffness, muscle atrophy and bone deformity.
Management of this disease is challenging and not standardized. It depends on the symptoms, and it varies from physical therapy to pharmacological approach or surgery to correct limb deformities, muscle and tendon contractures and joint stiffness.
This case report presents the clinical management and treatment of a patient with lower limb deformities due to melorheostosis using retrograde intramedullary nailing of the femurs.
The procedure provided stability to the affected bones, resulting in correction of deformities and alleviation of lower limb pain, improving her quality of life.
期刊介绍:
The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models.
Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as :
• Dysmorphology and syndrome delineation
• Molecular genetics and molecular cytogenetics of inherited disorders
• Clinical applications of genomics and nextgen sequencing technologies
• Syndromal cancer genetics
• Behavioral genetics
• Community genetics
• Fetal pathology and prenatal diagnosis
• Genetic counseling.