Results 71 to 80 of about 15,961 (249)

Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice

PLoS Genetics, 2017
Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2.
Sayantani Sinha, Christina Mundy, Till E Bechtold, F. Sgariglia, M. Ibrahim, P. Billings, K. Carroll, E. Koyama, Kevin B. Jones, M. Pacifici   +9 more
semanticscholar   +1 more source

Spontaneous regression of osteochondroma of the distal femur: A Pediatric case report and literature review

Journal of Medical Sciences, 2019
Spontaneous regression of an osteochondroma of the distal femur is unusual. This report highlights the spontaneous regression of a sessile osteochondroma of the distal femur in a 9-year-old boy which resolved over a 4-year period.
Chung-Yen Lin, Chih-Chien Wang, Chia-Chun Wu, Hsain-Chung Shen, Leou-Chyr Lin, Sheng-Hao Wang   +5 more
doaj   +1 more source

Unveiling a rare case of osteochondroma on the lateral pole of the mandibular condyle: An in-depth exploration of literature

Oral Oncology Reports, 2023
Osteochondroma is a rare bone tumor. Its occurrence in the maxillofacial region is rare due to the intramembranous development of facial bones. According to previous literature, the mandibular condyle is an infrequent site of involvement, with the medial
Md Kalim Ansari, Wasim Ahmad, Tabishur Rahman, Akash Ganguly, Sukanth Tatapudi, Marimuthu P   +5 more
doaj   +1 more source

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

, 2013
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively.
Anton, J., Armstrong, J., Artuch, R., Asteggiano, Carla Gabriela, Balcells, S., Delgado, María Andrea, Grinberg, D., Lapunzina, P., Martorell, L., Nevado, J., Sangorrin, A., Sarrión, P., Torner, F., Urreizti, R., Vilaseca, M. A.   +14 more
core   +1 more source

An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis‐Associated Pathway in the POIKTMP Syndrome

Journal of Cellular and Molecular Medicine, Volume 29, Issue 19, October 2025.
ABSTRACT Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP) is a rare hereditary disorder caused by mutations in the FAM111B gene, characterised by multi‐organ fibrosis, particularly affecting the lungs. This study investigates the molecular mechanisms of fibrosis in POIKTMP through genotyping and gene expression profiling ...
Nadine Tambwe, Musalula Sinkala, Oluwafemi G. Oluwole, Nonhlanhla P. Khumalo, Afolake Arowolo   +4 more
wiley   +1 more source

Osteochondroma of the scapula associated with a subclavian artery pseudoaneurysm: Case report

SAGE Open Medical Case Reports, 2019
Osteochondromas rarely induce vascular complications by mechanical compression. We present the case of a subclavian artery pseudoaneursym caused by an osteochondroma of the scapula in a 67-year-old male.
Ana Oljača, D. Hirzberger, M. Bergovec, K. Tiesenhausen, S. Koter, J. Friesenbichler, C. Viertler, A. Leithner   +7 more
semanticscholar   +1 more source

The Pathophysiological Functions of Heparanases: From Evolution, Structural and Tissue‐Specific Perspectives

The FASEB Journal, Volume 39, Issue 17, 15 September 2025.
Heparanase 1 (HPSE1) and Heparanase 2 (HPSE2) exhibit opposing expression patterns and functions in pathological contexts, such as cancer. Here, we describe their specific expression in immune cells and their implications in skin diseases. Although they are structurally similar and considered to be ‘cousins’, we found no common ancestor and that HPSE2 ...
Elham Vahdatahar, Clément Daviaud, Hugo Main, Rachel Havret, Claire Debarnot, Laure Favot‐Laforge, Jean‐François Jégou, Ingrid Fruitier‐Arnaudin, Antoine Dufour, Romain Vivès, Franck Morel, Yves Bourne, Kévin Baranger   +12 more
wiley   +1 more source

Hoffa’s Osteochondroma - Para-articular Extrasynovial Infrapatellar Fat Pad Osteochondroma: A Case Report

Journal of Nepal Medical Association, 2021
Osteochondroma usually arises from the metaphyseal region of growing bones. The occurrence of extraskeletal osteochondroma is rare with very few case reports. Para-articular osteochondroma is a type of extraskeletal osteochondroma.
Sunil Panta, Shrawan Kumar Thapa, Krishna Prasad Paudel, Manoj Kandel, Bishwa Raj Adhikari   +4 more
doaj   +1 more source

Peroneal nerve: normal anatomy and pathologic findings on routine MRI of the knee [PDF]

, 2013
Background : Peroneal nerve lesions are not common and are often exclusively assessed clinically and electromyographically. Methods : On a routine MR examination without dedicated MR-neurography sequences the peroneal nerve can readily be assessed. Axial
De Smet, E, Huysse, Wouter, VAN DEN BERGH, FRANS, Vanhoenacker, Filip, Verstraete, Koenraad   +4 more
core   +2 more sources

Teleangiectatic Osteosarcoma Treated by Surgery and Chemotherapy: A Report of 223 Affected Patients From the Cooperative Osteosarcoma Study Group (COSS)

Cancer Medicine, Volume 14, Issue 17, September 2025.
ABSTRACT Purpose Teleangiectatic osteosarcoma is a histologic subtype of osteosarcoma that can mimic aneurysmal bone cysts and has so far been incompletely characterized. Patients and Methods We used the database of the Cooperative Osteosarcoma Study Group COSS (patient‐registration 1980–2019) to better understand this rare histologic variant.
Stefan S. Bielack, Vanessa Mettmann, Daniel Baumhoer, Andreas Beilken, Claudia Blattmann, Godehard Friedel, Jendrik Hardes, Wolf Hassenpflug, Leo Kager, Matthias Kevric, Thekla von Kalle, Andreas Kulozik, Markus Metzler, Michaela Nathrath, Claudia Rossig, Benjamin Sorg, Mathias Werner, Stefanie Hecker‐Nolting   +17 more
wiley   +1 more source