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Short-term outcomes of gradual ulnar lengthening in multiple hereditary osteochondromas of the forearm with monolateral external fixator.
J Pediatr Orthop B
January 2025
Trauma Research Center, Rajaee (Emtiaz) Trauma Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Hereditary multiple exostoses is an autosomal dominant genetic condition primarily affecting long bones. Forearm deformities, including wrist ulnar deviation, ulnar shortening, radial or ulnar bowing, and radial head dislocation, are common manifestations. Gradual ulnar lengthening is suggested as a viable treatment option for managing these deformities.
View Article and Find Full Text PDFMinimal-invasive, image guided, 360-degree resection of ilio-lumbo-sacral ostechondroma, planned on the 3D model in a child with hereditary multiple ostechondroma (HMO).
Eur Spine J
December 2024
Department of Orthopedics, Umeå University Hospital, Umeå, Sweden.
Background: Hereditary Multiple Osteochondromas (HMO), previously known as Multiple Hereditary Exostoses (MHE), is a genetic disorder characterized by the formation of multiple, benign, exostoses (osteochondromas) growing from the metaphyseal region of long bones as well as from the axial skeleton. Lesions originating from the lumbar spine region are rare, and are most common growing from the posterior element of the vertebrae. HMO associated osteochondromas are difficult to treat due to continuous and incontrollable growth of these lesions and a lifetime risk for malignant transformation.
View Article and Find Full Text PDFIdentification of novel germline mutations in FUT7 and EXT1 linked with hereditary multiple exostoses.
Oncogene
December 2024
Affiliated Cancer Hospital and Institute of Guangzhou Medical University, Guangzhou, 510095, P. R. China.
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder primarily linked with mutations in Exostosin-1 (EXT1) and Exostosin-2 (EXT2) genes. However, not all HME cases can be explained by these mutations, and its pathogenic mechanisms are not fully understood. Herein, utilizing whole-exome sequencing and genetic screening with a family trio design, we identify two novel rare mutations co-segregating with HME in a Chinese family, including a nonsense mutation (c.
View Article and Find Full Text PDFIntrathecal Fentanyl Pump Placement in a Patient With Chronic Pain Caused by Hereditary Multiple Exostoses: A Case Report.
Cureus
November 2024
Anesthesiology, Louisiana State University Health Sciences Center, Shreveport, USA.
Hereditary multiple exostoses (HME) is a genetic disorder defined by the formation of benign bone tumors known as exostoses, which can lead to chronic pain and functional impairment. This case report details a 57-year-old man with a long-standing history of severe diffuse bone pain attributed to HME. Despite various treatments, his pain remained poorly controlled until an intrathecal pump with fentanyl was implanted.
View Article and Find Full Text PDFHereditary exostosis: An unexpected malignant transformation in a pediatric patient.
Radiol Case Rep
January 2025
Radiology Department of HER, University Mohammed V, Rabat, Morocco.
In this article, we report the case of an 8-year-old child with multiple hereditary exostoses, revealed by the rapid and painful growth of bone deformities in the right leg. After performing a CT scan, multiple exostoses were observed in the pelvic region and both lower limbs. Notably, the exostosis in the right fibula was larger and exhibited a thickened cartilaginous cap.
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