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Hereditary multiple exostoses: an educational review [PDF]

Insights into Imaging
Hereditary multiple exostoses (HME), an autosomal dominant disorder with an incidence of 1:50,000 to 1:100,000, is characterised by the formation of multiple osteochondromas arising from the metaphyses of long and flat bones.
Alvaro Rueda-de-Eusebio, Sara Gomez-Pena, María José Moreno-Casado, Gloria Marquina, Juan Arrazola, Ana María Crespo-Rodríguez   +5 more
doaj   +3 more sources

Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma [PDF]

Radiology Case Reports
We present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh.
Federica Masino, MD, Manuela Montatore, MD, Rossella Carpentiere, MD, Marina Balbino, MD, Rossella Gifuni, MD, Giacomo Fascia, MD, Giuseppe Guglielmi, MD   +6 more
doaj   +3 more sources

Hereditary multiple exostoses: A case report and literature review [PDF]

SAGE Open Medical Case Reports, 2022
Osteochondroma is the most common bone tumor representing 20%–50% of all benign bone tumors and 10%–15% of all bone tumors. Osteochondroma has similar radiological appearance in both solitary and multiple forms; the latter is an autosomal dominant ...
Thi Hien Ha, Thi Minh Thi Ha, Mao Nguyen Van, Trong Binh Le, Nghi Thanh Nhan Le, Thao Nguyen Thanh, Dac Hong An Ngo   +6 more
doaj   +3 more sources

Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report [PDF]

Journal of Current Ophthalmology, 2023
Purpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family. Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas).
Shashi Tanwar, Nishtha Saini, Krutika Boriwal, Prashant Sharma   +3 more
doaj   +3 more sources

Management of Lower Extremity Deformity in Children with Hereditary Multiple Exostoses [PDF]

Journal of the Pediatric Orthopaedic Society of North America
Hereditary multiple exostoses (HME) is a rare genetic disorder characterized by multiple benign, cartilage-capped bony tumors, most often found at the juxta-epiphyseal regions of long bones.
Matthew J. Whalen, MS, Harold J.P. van Bosse, MD   +1 more
doaj   +3 more sources

Costal chondrosarcoma in a woman with hereditary multiple exostoses - a case report [PDF]

Frontiers in Oncology
In this report, we present a case of a 32-year-old female previously diagnosed with hereditary multiple exostoses(HME) who was incidentally found to have an asymptomatic anterior mediastinal mass during a routine examination.
Ze Yang, Kaiqiang Wang, Jiangtao Pu
doaj   +3 more sources

Hereditary Multiple Exostoses: Current Insights [PDF]

Orthopedic Research and Reviews, 2019
Antonio D’Arienzo, Lorenzo Andreani, Federico Sacchetti, Simone Colangeli, Rodolfo Capanna Department of Translational Research on New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Federico SacchettiDepartment of
D'Arienzo A, Andreani L, Sacchetti F, Colangeli S, Capanna R   +4 more
doaj   +5 more sources

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses [PDF]

Clinical Case Reports, 2022
To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger ...
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +3 more sources

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene. [PDF]

Mol Cytogenet, 2023
Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas.
Alexandrou A, Salameh N, Papaevripidou I, Nicolaou N, Myrianthopoulos P, Ketoni A, Kousoulidou L, Anastasiou AM, Evangelidou P, Tanteles GA, Sismani C.   +10 more
europepmc   +2 more sources

Chest wall osteochondroma resection with biologic acellular bovine dermal mesh reconstruction in pediatric hereditary multiple exostoses: A case report and review of literature. [PDF]

World J Clin Cases, 2023
BACKGROUND Hereditary multiple exostoses is a rare genetic disorder characterized by the growth of multiple osteochondromas affecting primarily long bones. Chest wall lesions may represent a challenge, particularly in pediatric patients. Pain is a common
Alshehri A.
europepmc   +2 more sources