Results 71 to 80 of about 1,621 (210)

Chondrosarcoma in Metachondromatosis: A Rare Case Report

Acta Medica Iranica, 2018
Metachondromatosis which was first described in 1971 by Maroteaux is a rare genetic disease consisting of osteochondromas and enchondromas, caused by loss of function of the PTPN11 gene.
Khodamorad Jamshidi, Tina Shooshtarizadeh, Mehrdad Bahrabadi   +2 more
doaj  

Cervical Myelopathy Caused by Disc Herniation at the Segment of Existing Osteochondroma in a Patient with Hereditary Multiple Exostoses [PDF]

Asian Spine Journal, 2014
Hereditary multiple exostoses (HME) is a benign hereditary disorder characterized by multiple osteochondromas. Osteochondroma appears occasionally in the spinal column as a part of HME.
Ko Ikuta, Kiyoshi Tarukado, Hideyuki Senba, Takahiro Kitamura, Norihiro Komiya, Satoshi Shidahara   +5 more
doaj   +1 more source

Familiäre Tumorerkrankungen im Knochen [PDF]

, 2018
Zusammenfassung: Familiäre Erkrankungen, die zur Bildung von Knochentumoren führen, sind selten. Sie entwickeln sich im Zusammenhang mit genetischen Alterationen, die den Zellzyklus (Retinoblastomsyndrom/RB1, Li-Fraumeni-Syndrom/p53), wachstumssteuernde ...
Baumhoer, D., Jundt, G.
core  

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

Complicaciones de los osteocondromas [PDF]

, 2009
Los osteocondromas o exostosis cartilaginosas son los tumores óseos más frecuentes, representando el 10-15 % de la totalidad. Parece ser más bien una alteración del desarrollo óseo más que un tumor verdadero.
Carpintero Benítez, Pedro, Carpintero, R., Fresno, J.A. del, Gálvez, M.J., Marín, M.A.   +4 more
core  

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

Surgical Approach and Considerations for Compressive Thoracic Intraspinal Osteochondroma in Familial Hereditary Multiple Exostosis

Diseases
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.
Corneliu Toader, Antonio-Daniel Corlatescu, Nicolaie Dobrin, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Alexandru Vlad Ciurea   +5 more
doaj   +1 more source

Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas

Journal of Children's Orthopaedics, 2017
Purpose Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences
J. Stevens, T. J. M. Welting, A. M. Witlox, L. W. van Rhijn, H. M. Staal   +4 more
doaj   +1 more source

A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis [PDF]

Perspectives In Medical Research
Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones.
Annu Nanda, Qury Sabita Mahapatra, Shalini Trivedi   +2 more
doaj   +1 more source

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