1,504 results match your criteria Osteochondroma and Osteochondromatosis


Multiple Exostoses Syndrome and Basilar Artery Aneurysm: A Case Report.

J Vasc Interv Neurol 2018 Nov;10(2):28-32

Department of Neurosurgery, University of Patras, Patras, Greece.

Background: Hereditary multiple exostoses (HME) is an inherited genetic condition, characterized by the formation of multiple osteochondromas, developing throughout childhood and into puberty. Vascular complications associated with HME are uncommon.

Methods: A case of a patient with HME who was admitted to hospital with subarachnoid hemorrhage (SAH), as a result of acute rupture of a basilar tip aneurysm (BTA), will be presented. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350870PMC
November 2018
1 Read

Identification of risk factors affecting bone formation in gradual ulnar lengthening in children with hereditary multiple exostoses: A retrospective study.

Medicine (Baltimore) 2019 Feb;98(5):e14280

Department of Pediatric Orthopedics.

The forearm deformity classified by Masada is a characteristic trait of patients with hereditary multiple exostoses (HME). Ulnar gradual lengthening, which was considered to be a safe and reliable procedure, was popular in treating these difficult deformities, however, delayed consolidation of the callus is uncommon but not rare in literature review. The purpose of this study was to try to identify the risk factors influencing bone healing in gradual ulnar lengthening in HME. Read More

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http://dx.doi.org/10.1097/MD.0000000000014280DOI Listing
February 2019

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

SAGE Open Med Case Rep 2019 10;7:2050313X18823089. Epub 2019 Jan 10.

Department of Orthopaedics and Trauma, Medical University of Graz, Graz, Austria.

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. The diagnosis was based on a previous history of multiple exostoses, computed tomography and magnetic resonance imaging, as well as the local vascular clinical status of the lesion. Read More

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http://dx.doi.org/10.1177/2050313X18823089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330723PMC
January 2019

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.

Mol Genet Genomic Med 2019 Jan 10:e00560. Epub 2019 Jan 10.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.

Background: We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas.

Methods: The patient underwent extensive genetic testing and analysis in an attempt to diagnose the cause of his condition. Clinical testing included metaphase karyotyping, array comparative genomic hybridization, direct sequencing and multiplex ligation-dependent probe amplification and trio-based exome sequencing. Read More

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http://dx.doi.org/10.1002/mgg3.560DOI Listing
January 2019

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Medicine (Baltimore) 2018 Oct;97(42):e12855

Department of Medical Genetics.

Hereditary multiple osteochondroma (HMO) is one of the most common genetic skeletal disorders. It is caused by mutations in either EXT1 or EXT2 resulting in abnormal skeletal growth and morphogenesis. However, the spectrum and frequency of EXT1 and EXT2 mutations in Chinese patients with HMO was not previously investigated. Read More

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http://Insights.ovid.com/crossref?an=00005792-201810190-0005
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http://dx.doi.org/10.1097/MD.0000000000012855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211902PMC
October 2018
7 Reads

Large rib osteochondroma in a child in Aleppo, Syria.

J Surg Case Rep 2018 Sep 21;2018(9):rjy247. Epub 2018 Sep 21.

Department of Hematology and Oncology, Lifespan Cancer Institute Providence, Rhode Island 02903, USA.

Background: Osteochondromas are the most common tumors of the long bones in children. Osteochondromas can rarely be seen in the chest wall and they are usually diagnosed at a young age. They can be sporadic or part of the hereditary multiple exostoses. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/jscr/rjy247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149231PMC
September 2018
1 Read

Hereditary multiple exostoses of the ribs as an uncommon cause of pneumothorax: A case report.

Medicine (Baltimore) 2018 Aug;97(35):e11894

Department of Respiratory Diseases, University Hospital, Reims, France.

Rationale: Hereditary multiple exostoses (HME) is a genetic musculoskeletal condition causing multiple exostoses. Rib location of exostosis can be complicated by thoracic injuries.

Patient Concerns And Diagnoses: We report a case of pneumothorax in a 32-year-old man with a partial left-sided pneumothorax caused by an exostosis of the fourth and fifth ribs. Read More

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http://dx.doi.org/10.1097/MD.0000000000011894DOI Listing
August 2018
9 Reads

More Than Epiphyseal Osteochondromas: Updated Understanding of Imaging Findings in Dysplasia Epiphysealis Hemimelica (Trevor Disease).

AJR Am J Roentgenol 2018 Oct 30;211(4):910-919. Epub 2018 Aug 30.

1 Department of Radiology, The Children's Hospital of Philadelphia, 3NW39, 3401 Civic Center Blvd, Philadelphia, PA 19104.

Objective: The purpose of this article is to discuss approaches to imaging dysplasia epiphysealis hemimelica in the context of recent advances in the understanding of the underlying pathophysiologic profile of this entity, which may result in pain, growth disturbance, and early development of osteoarthritis.

Conclusion: Dysplasia epiphysealis hemimelica was first characterized as a skeletal disorder with osteochondromas characteristically involving epiphyses on one side of the same lower extremity. Upper extremity involvement was subsequently recognized. Read More

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http://dx.doi.org/10.2214/AJR.18.19712DOI Listing
October 2018
2 Reads

Osteoblastic Osteosarcoma Arising beneath an Osteochondroma in an 11-Year-Old Male with Multiple Hereditary Exostoses.

Case Rep Orthop 2018 12;2018:8280415. Epub 2018 Jul 12.

Department of Pathology & Laboratory Medicine, King Faisal Hospital, OSHEN, Kigali, Rwanda.

Introduction: Multiple hereditary exostoses (MHE) is a rare autosomal dominant disorder characterized by the presence of multiple skeletal deformities. They are painless slow-growing lesions. Malignant transformation tends to occur later in adulthood and has only been seen in 1-5% of patients. Read More

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https://www.hindawi.com/journals/crior/2018/8280415/
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http://dx.doi.org/10.1155/2018/8280415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079448PMC
July 2018
3 Reads

Multiple Hereditary Exostoses: Report of an Gene Mutation in a Colombian Family.

J Pediatr Genet 2018 Sep 7;7(3):122-124. Epub 2018 Mar 7.

Department of Pediatrics, Hospital de San José, Bogotá D.C., Colombia.

Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the or genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1636998
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http://dx.doi.org/10.1055/s-0038-1636998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087478PMC
September 2018
4 Reads

Reverse Shoulder Arthroplasty for Primary Synovial Osteochondromatosis of the Shoulder with Massive Rotator Cuff Tear and Marked Degenerative Arthropathy.

J Clin Med 2018 Jul 30;7(8). Epub 2018 Jul 30.

Department of Orthopaedic Surgery, Kanazawa Medical University, Daigaku 1-1, Uchinada, Kahoku-gun, Ishikawa 920-0293, Japan.

Synovial osteochondromatosis (SO) is a rare disease in which chondrometaplasia develops in the synovium of joints, bursa, and tendon sheaths. SO is found most frequently in the knee joint, while cases of SO developing in the shoulder joint are rare, accounting for only 1.9⁻5. Read More

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http://dx.doi.org/10.3390/jcm7080189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112024PMC
July 2018
2 Reads

Post-traumatic pseudoaneurysm of brachial artery in multiple hereditary exostoses.

BMJ Case Rep 2018 Jun 27;2018. Epub 2018 Jun 27.

Pediatric Orthopaedic Associates, East Brunswick, New Jersey, USA.

Pseudoaneurysms adjacent to exostoses have been commonly reported in the femoral and popliteal arteries and only rarely in the upper extremity. We describe a case of an 18-year-old man with multiple hereditary exostoses who developed a brachial artery pseudoaneurysm after minor trauma to his right upper arm, adjacent to a known lesion. He was referred to a vascular surgeon who removed the pseudoaneurysm and repaired the artery with a saphenous vein graft. Read More

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http://dx.doi.org/10.1136/bcr-2018-224353DOI Listing
June 2018
6 Reads

Huge Bursitis and Bursal Synovial Osteochondromatosis Associated With Scapular Osteochondroma Mimicking a Giant Calcific Mass of the Chest Wall.

Am J Phys Med Rehabil 2019 Jan;98(1):e1-e3

From the Department of Orthopedic, Medical Faculty, Ataturk University, Erzurum, Turkey (KT); and Department of Radiology, Medical Faculty, Ataturk University, Erzurum, Turkey (EI, BC, HO, MK).

Osteochondroma is the most common benign bone tumor, but it rarely arises from the scapula. Scapulothoracic bursitis is quite rare and osteochondroma is one of the unusual causes of this condition. Synovial chondromatosis may occur extremely uncommonly in this bursa. Read More

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http://dx.doi.org/10.1097/PHM.0000000000000983DOI Listing
January 2019
17 Reads

Multiple Hereditary Exostoses with Tetraparesis Due To Cervical Spine Osteochondroma.

World Neurosurg 2018 Aug 18;116:247-248. Epub 2018 May 18.

Avicenne Military Hospital, Marrakech, and Department of Neurosurgery, Mohammed V University, Rabat, Morocco.

This is a case report of a 34-year-old man with hereditary multiple exostoses who presented with gradual tetraparesis. Neuroimaging evaluation revealed an important posterior spinal cord compression by a C3 bony formation. Following posterior microsurgical decompression, the patient recovered nearly completely. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.05.078DOI Listing
August 2018
2.420 Impact Factor

Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report.

Medicine (Baltimore) 2018 Apr;97(17):e0512

Department of Nuclear Medicine, The Affiliated Hospital of Southwest Medical University.

Rationale: Metachondromatosis (MC) is a very rare genetic disease, which is infrequently reported worldwide, which leads to osteochondroma and enchondromatosis. The disease has been shown to be associated with loss of function of the tumor suppressor gene "protein tyrosine phosphatase, non-receptor type 11" (PTPN11).

Patient Concerns: A 12-year-old female was admitted to the hospital with pain due to an enlarged mass in her left fifth finger. Read More

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http://dx.doi.org/10.1097/MD.0000000000010512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944487PMC
April 2018
6 Reads

Heparan sulfate antagonism alters bone morphogenetic protein signaling and receptor dynamics, suggesting a mechanism in hereditary multiple exostoses.

J Biol Chem 2018 05 5;293(20):7703-7716. Epub 2018 Apr 5.

From the Translational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, and.

Hereditary multiple exostoses (HME) is a pediatric disorder caused by heparan sulfate (HS) deficiency and is characterized by growth plate-associated osteochondromas. Previously, we found that osteochondroma formation in mouse models is preceded by ectopic bone morphogenetic protein (BMP) signaling in the perichondrium, but the mechanistic relationships between BMP signaling and HS deficiency remain unclear. Therefore, we used an HS antagonist (surfen) to investigate the effects of this HS interference on BMP signaling, ligand availability, cell-surface BMP receptor (BMPR) dynamics, and BMPR interactions in Ad-293 and C3H/10T1/2 cells. Read More

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http://dx.doi.org/10.1074/jbc.RA117.000264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961057PMC
May 2018
5 Reads

Osteochondromas of the Proximal Humerus. Diagnostic and Therapeutic Management.

Rev Esp Cir Ortop Traumatol 2018 May - Jun;62(3):168-177. Epub 2018 Mar 20.

Servicio de Anatomía Patológica, Complejo Asistencial Universitario de León, León, España.

Objective: 1) To recall the epidemiology and signs of osteochondromas of the proximal humerus (OPH); 2) determine treatment indications; 3) and make recommendations for surgical treatment.

Methods: Retrospective, observational and longitudinal study of 20 solitary and 12 multiple osteochondromas of the proximal humerus. We analyzed the epidemiological, clinical and imaging characteristics and treatment results with an average time of follow-up of the operated cases of 45 months. Read More

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http://dx.doi.org/10.1016/j.recot.2017.12.003DOI Listing
October 2018
1 Read

Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma.

Oncol Lett 2018 Apr 22;15(4):4383-4389. Epub 2018 Jan 22.

Department of Orthopedics and Joint Surgery, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang 310014, P.R. China.

Hereditary multiple osteochondroma (HMO) is an autosomal dominant genetic disorder characterized by multiple outgrowing bony tumors capped by cartilage, generally affecting the metaphyses. The disease is known as hereditary multiple exostoses, familial exostosis, multiple cartilaginous exostoses or hereditary malformation of cartilage. The prevalence of HMO in Europe and the Unites States is ~1:100,000, although it has not been reported in China. Read More

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http://dx.doi.org/10.3892/ol.2018.7838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835906PMC
April 2018
5 Reads

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Mol Genet Genomic Med 2018 05 12;6(3):382-392. Epub 2018 Mar 12.

Department of Orthopaedics, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil.

Background: Multiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in EXT1 or EXT2 genes in 70%-90% of patients. The EXT1 is more often mutated than EXT2 gene, with a variable prevalence between populations. Read More

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http://dx.doi.org/10.1002/mgg3.382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014457PMC
May 2018
3 Reads

A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.

J Vet Intern Med 2018 May 27;32(3):986-992. Epub 2018 Feb 27.

Department of Clinical Sciences, North Carolina State University, Raleigh, North Carolina.

Background: We aimed to identify mutations associated with osteochondromatosis in a litter of American Staffordshire Terrier puppies.

Hypothesis: We hypothesized that the associated mutation would be located in a gene that causes osteochondromatosis in humans.

Animals: A litter of 9 American Staffordshire puppies, their sire and dam, 3 of 4 grandparents, 26 healthy unrelated American Staffordshire Terriers, and 154 dogs of 27 different breeds. Read More

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http://dx.doi.org/10.1111/jvim.15073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980316PMC
May 2018
8 Reads

Rhabdomyolysis in Stuve-Wiedemann syndrome.

BMJ Case Rep 2018 Feb 8;2018. Epub 2018 Feb 8.

Paediatric Department, University Hospital of Wales, Cardiff, UK.

A 6-month-old male infant with Stuve-Wiedemann syndrome (SWS) presented with an acute respiratory arrest secondary to a rhinovirus respiratory infection from which he was rapidly resuscitated. He developed an acute kidney injury requiring supportive treatment and on day 3 of his illness was noted to have developed severe rhabdomyolysis (creatine kinase level 132 040 U/L (normal <320 U/L)). He was born from consanguineous parents with homozygous mutations in the leukaemia inhibitory factor receptor. Read More

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http://dx.doi.org/10.1136/bcr-2017-222863DOI Listing
February 2018
20 Reads

[Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Feb;35(1):91-95

Institute of Medical Genetics of Henan Province, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. Email:

OBJECTIVE To detect potential mutations of the EXT1 and EXT2 genes in a pedigree affected with hereditary multiple exostosis (HME). METHODS For a four-generation family with 7 affected individuals from 17 family members,genomic DNA was extracted from peripheral venous blood samples. All exons of the EXT1 and EXT2 genes were screened for potential mutation by PCR and Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.01.021DOI Listing
February 2018
5 Reads

Chondrosarcoma in Metachondromatosis: A Rare Case Report.

Acta Med Iran 2017 Dec;55(12):793-799

Bone and Joint Reconstruction Research Center, Shafa Orthopedic Hospital, Iran University of Medical Sciences, Tehran, Iran.

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. It is distinct from other cartilaginous tumors such as multiple osteochondromas and hereditary multiple exostosis by the distribution and orientation of lesions, and pattern of inheritance. In Metachondromatosis osteochondromas typically occur in hands, feet, femur, and tibia while enchondromas commonly affect the pelvic bones and femurs. Read More

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December 2017
2 Reads

Heterotopic Ossification of the Xiphoid Process after Abdominal Surgery for Traumatic Hemoperitoneum.

J Korean Med Sci 2018 Feb 12;33(7):e62. Epub 2018 Feb 12.

Department of Thoracic Surgery, Daegu Catholic University Medical Center, Daegu, Korea.

Heterotopic ossification of the xiphoid process is extremely rare, with only three cases previously reported. However, the surgical pathology for postoperative elongation of the xiphoid process after abdominal surgery has not yet been reported. We report a case of the postoperative elongation of the xiphoid process, 8 years after abdominal surgery for traumatic hemoperitoneum in a 53-year-old man. Read More

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https://synapse.koreamed.org/DOIx.php?id=10.3346/jkms.2018.3
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http://dx.doi.org/10.3346/jkms.2018.33.e62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785630PMC
February 2018
8 Reads

Concomitant neurogenic and vascular thoracic outlet syndrome due to multiple exostoses.

Ann Card Anaesth 2018 Jan-Mar;21(1):71-73

Department of Epidemiology and Biostatistics, Neurology and Neurosciences Research center, Qom University of Medical Sciences, Qom, Iran.

We report a rare case of multiple hereditary exostosis where patient presented with bilateral base of neck exostoses with concurrent compression of brachial plexus and subclavian artery and vein. The patient was a young 26-year-old woman with chief complaints of pain in the left upper extremity, paresthesia in the left ring and little finger, and weakness in hand movement and grip. On referral, history, physical examination, radiological imaging, and electrodiagnostic tests evaluated the patient. Read More

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http://dx.doi.org/10.4103/aca.ACA_119_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791495PMC
October 2018
5 Reads

A child with painless left wrist swelling.

Skeletal Radiol 2018 04;47(4):547-548, 599-600

Department of Diagnostic and Interventional Radiology, Kwong Wah Hospital, 25 Waterloo Road, Yau Ma Tei, Hong Kong.

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http://dx.doi.org/10.1007/s00256-017-2858-4DOI Listing
April 2018
3 Reads

The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.

Matrix Biol 2018 10 24;71-72:28-39. Epub 2017 Dec 24.

Translational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States. Electronic address:

Heparan sulfate (HS) is an essential component of cell surface and matrix proteoglycans (HS-PGs) that include syndecans and perlecan. Because of their unique structural features, the HS chains are able to specifically interact with signaling proteins -including bone morphogenetic proteins (BMPs)- via their HS-binding domain, regulating protein availability, distribution and action on target cells. Hereditary Multiple Exostoses (HME) is a rare pediatric disorder linked to germline heterozygous loss-of-function mutations in EXT1 or EXT2 that encode Golgi-resident glycosyltransferases responsible for HS synthesis, resulting in a systemic HS deficiency. Read More

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http://dx.doi.org/10.1016/j.matbio.2017.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6015767PMC
October 2018
1 Read

Transpedicular Excision of a Thoracic Intraspinal Osteochondroma in a Patient with Hereditary Multiple Exostoses and Brown-Séquard Syndrome.

World Neurosurg 2018 Mar 16;111:94-98. Epub 2017 Dec 16.

Department of Spine Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Background: Spinal osteochondroma is a rare but recognized cause of myelopathy. Brown-Séquard syndrome is a form of severe myelopathy characterized by a clinical picture of hemisection of the spinal cord. Brown-Séquard syndrome caused by osteochondroma is extremely rare, calling for individualized surgical procedures. Read More

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http://dx.doi.org/10.1016/j.wneu.2017.12.054DOI Listing
March 2018
13 Reads

Surgical dislocation of the hip without trochanteric osteotomy.

J Orthop Surg (Hong Kong) 2017 01;25(1):2309499016684414

Orthopedic Surgery Department, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

Background: Surgical dislocation of the hip remains an important alternative in hip preservation surgery, especially when a dynamic access to the hip is needed and arthroscopy is not a suitable option. We describe a novel technique for operative dislocation of the hip without trochanteric osteotomy and the clinical results of our patients.

Methods: Surgical dislocation of the hip without trochanteric osteotomy was done through a modified lateral approach in all of the cases. Read More

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http://dx.doi.org/10.1177/2309499016684414DOI Listing
January 2017
5 Reads

Intra-articular osteochondroma of the posteroinferior femoral neck associated with hip joint osteochondromatosis: A case report.

Mol Clin Oncol 2017 Nov 19;7(5):915-918. Epub 2017 Sep 19.

Department of Orthopaedics Surgery, Chonbuk National University Medical School, Research Institute for Endocrine Sciences and Research Institute of Clinical Medicine, Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, Jeollabuk 561-756, Republic of Korea.

Osteochondromas are usually extra-articular lesions originating from the metaphysis of long bones. Intra-articular osteochondromas may also occur, causing pain and discomfort and restricting the range of motion. Osteochondromas of the femoral neck are intra-articular lesions that are difficult to access for surgical resection, particularly when located posteriorly. Read More

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http://dx.doi.org/10.3892/mco.2017.1411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700261PMC
November 2017
5 Reads

VISUAL VIGNETTE.

Endocr Pract 2018 Mar 16;24(3):318. Epub 2017 Nov 16.

From the Department of Endocrinology, Army Hospital (R&R), Delhi - 110010. India.

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http://dx.doi.org/10.4158/EP-2017-0148DOI Listing
March 2018
2.810 Impact Factor

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.

BMC Med Genet 2017 11 10;18(1):126. Epub 2017 Nov 10.

Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Background: Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical phenotypes in Chinese patients.

Methods: Forty-six patients from different families were prospectively enrolled. Read More

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http://dx.doi.org/10.1186/s12881-017-0488-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681804PMC
November 2017
24 Reads

Palovarotene Inhibits Osteochondroma Formation in a Mouse Model of Multiple Hereditary Exostoses.

J Bone Miner Res 2018 Apr 30;33(4):658-666. Epub 2017 Nov 30.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.

Multiple hereditary exostoses (MHE), also known as multiple osteochondromas (MO), is an autosomal dominant disorder characterized by the development of multiple cartilage-capped bone tumors (osteochondromas). The large majority of patients with MHE carry loss-of-function mutations in the EXT1 or EXT2 gene, which encodes a glycosyltransferase essential for heparan sulfate (HS) biosynthesis. Increasing evidence suggests that enhanced bone morphogenetic protein (BMP) signaling resulting from loss of HS expression plays a role in osteochondroma formation in MHE. Read More

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http://dx.doi.org/10.1002/jbmr.3341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895492PMC
April 2018
8 Reads

Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference.

Connect Tissue Res 2018 01 3;59(1):85-98. Epub 2017 Nov 3.

a Department of Cellular and Molecular Medicine , Glycobiology Research and Training Center, University of California , San Diego, La Jolla , CA , USA.

Multiple hereditary exostoses (MHE) is an autosomal dominant disorder that affects about 1 in 50,000 children worldwide. MHE, also known as hereditary multiple exostoses (HME) or multiple osteochondromas (MO), is characterized by cartilage-capped outgrowths called osteochondromas that develop adjacent to the growth plates of skeletal elements in young patients. These benign tumors can affect growth plate function, leading to skeletal growth retardation, or deformations, and can encroach on nerves, tendons, muscles, and other surrounding tissues and cause motion impairment, chronic pain, and early onset osteoarthritis. Read More

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https://www.tandfonline.com/doi/full/10.1080/03008207.2017.1
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http://dx.doi.org/10.1080/03008207.2017.1394295DOI Listing
January 2018
12 Reads

One-stage surgical excision of a huge bilateral multiple osteochondroma of the hip: a case report.

Electron Physician 2017 Sep 25;9(9):5310-5317. Epub 2017 Sep 25.

M.D., Assistant Researcher, Medical Faculty, Mashhad University of Medical Sciences, Mashhad, Iran.

Osteochondroma or hereditary multiple exostoses is the most common benign bone tumor and is usually found in young patients. Osteochondromata of the proximal femur or hip have been reported in 30% to 90% of patients with hereditary multiple exostoses. This article presents a 25-year-old-male referred to our orthopedic clinic with a complaint of pain in both groins for the last four years which has deteriorated in the past 6 months by limitation of range of motion. Read More

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http://dx.doi.org/10.19082/5310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5633231PMC
September 2017
2 Reads

Radial head resection and hemi-interposition arthroplasty in patients with multiple hereditary exostoses: description of a new surgical technique.

J Pediatr Orthop B 2018 Jul;27(4):289-295

Department of Orthopaedic, Trauma, and Spine Surgery, Section Upper Extremity, Asklepios Klinik Altona, Hamburg, Germany.

Multiple hereditary exostoses (MHE) are a rare disorder characterized by the growth of bony protrusions. Elbow involvement is found in a considerable number of patients and varies from the presence of a simple osteochondroma to severe forearm deformities and radial head dislocation. Patients encounter a variety of symptoms, for example, pain, functional impairment, and cosmetic concerns. Read More

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http://dx.doi.org/10.1097/BPB.0000000000000496DOI Listing
July 2018
11 Reads

Subpleural cystic change in a patient with multiple rib exostoses.

Thorax 2018 03 9;73(3):300-301. Epub 2017 Oct 9.

Department of Radiology, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

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http://dx.doi.org/10.1136/thoraxjnl-2017-210674DOI Listing
March 2018
3 Reads

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

Prague Med Rep 2017;118(2-3):87-94

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2 genes. Read More

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https://pmr.lf1.cuni.cz/118/2/0087/
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http://dx.doi.org/10.14712/23362936.2017.8DOI Listing
February 2018
13 Reads

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.

Mol Med Rep 2017 Oct 14;16(4):5599-5605. Epub 2017 Aug 14.

Department of Osteoporosis and Bone Diseases, Metabolic Bone Disease and Genetics Research Unit, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China.

The aim of the present study was to identify mutations of major causative genes in six unrelated Chinese families with multiple osteochondromas (MO). Radiographic examinations and genetic analyses were performed in 8 patients exhibiting typical features of MO. Analysis was also performed on unaffected members of the six families and 250 healthy volunteers. Read More

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http://dx.doi.org/10.3892/mmr.2017.7252DOI Listing
October 2017
6 Reads

Dysplasia epiphysealis hemimelica: a histological comparative study with osteochondromas.

J Child Orthop 2017 Jun;11(3):160-168

Department of Orthopaedic Surgery, Research School CAPHRI, Maastricht University Medical Centre, Maastricht, The Netherlands.

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 exist between DEH and osteochondromas. The aim of this study was to test whether DEH and osteochondromas are histologically identical diseases. Read More

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http://dx.doi.org/10.1302/1863-2548.11.160208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548029PMC
June 2017
2 Reads

Hereditary multiple exostoses as a novel cause of bilateral popliteal artery aneurysms in the elderly.

Cardiovasc Pathol 2017 Nov - Dec;31:20-25. Epub 2017 Jul 8.

Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

Hereditary multiple exostoses (HME) is a genetic condition characterized by the development of multiple osteochondromas during childhood and adolescence. On rare occasions, these bony tumors can be associated with vascular injury, most commonly involving the popliteal artery. Such patients typically present with vascular complications in adolescence and young adulthood. Read More

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http://dx.doi.org/10.1016/j.carpath.2017.07.001DOI Listing
July 2018
16 Reads

Tumor Syndromes That Include Bone Tumors: An Update.

Surg Pathol Clin 2017 Sep;10(3):749-764

Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopedic Institute, Via Pupilli 1, Bologna 40136, Italy.

Tumor syndromes, including bone neoplasias, are genetic predisposing conditions characterized by the development of a pattern of malignancies within a family at an early age of onset. Occurrence of bilateral, multifocal, or metachronous neoplasias and specific histopathologic findings suggest a genetic predisposition syndrome. Additional clinical features not related to the neoplasia can be a hallmark of specific genetic syndromes. Read More

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http://dx.doi.org/10.1016/j.path.2017.04.009DOI Listing
September 2017
4 Reads

Aberrant perichondrial BMP signaling mediates multiple osteochondromagenesis in mice.

JCI Insight 2017 Aug 3;2(15). Epub 2017 Aug 3.

Multiple hereditary exostoses (MHE) is characterized by the development of numerous benign bony tumors (osteochondromas). Although it has been well established that MHE is caused by mutations in EXT1 and EXT2, which encode glycosyltransferase essential for heparan sulfate (HS) biosynthesis, the cellular origin and molecular mechanisms of MHE remain elusive. Here, we show that in Ext1 mutant mice, osteochondromas develop from mesenchymal stem cell-like progenitor cells residing in the perichondrium, and we show that enhanced BMP signaling in these cells is the primary signaling defect that leads to osteochondromagenesis. Read More

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http://dx.doi.org/10.1172/jci.insight.90049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5543909PMC
August 2017
7 Reads

Proximal epithelioid sarcomatous dedifferentiation in secondary chondrosarcoma in a known case of multiple osteochondromatosis.

J Lab Physicians 2017 Jul-Sep;9(3):214-216

Department of Pathology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Osteochondroma is the most common benign bone tumor. Approximately 15% of osteochondromas occur as multiple lesions. Multiple osteochondromatosis has a higher risk of developing chondrosarcomas, which are of low grade with good prognosis. Read More

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http://dx.doi.org/10.4103/0974-2727.208253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496302PMC
July 2017
3 Reads

[Analysis of a multiple osteochondroma case caused by novel splice mutation (c.1164+1G to A) of EXT1 gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Jun;34(3):411-415

Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University, Fuzhou, Fujian 350007, China.

Objective: To detect potential mutation of EXT1 gene in a pedigree affected with multiple osteochondroma and explore its pathogenic mechanism.

Methods: The coding regions and their flanking sequences of the EXT1/EXT2 genes were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified by excluding possible single nucleotide polymorphisms and bioinformatics analysis. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.03.022DOI Listing
June 2017
22 Reads

Pes Anserinus Syndrome Caused by Osteochondroma in Paediatrics: A Case Series Study.

Open Orthop J 2017 17;11:397-403. Epub 2017 May 17.

The Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Introduction: Osteochondroma is a common benign bone tumor, protruding from the underlying normal bone. Osteochondromas can cause pain depending on their location and size. The pes anserinus is located at the proximal medial side of the tibia, where the tendinous insertions of the sartorius, gracilis and semitendinosus muscles collectively attach. Read More

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http://dx.doi.org/10.2174/1874325001711010397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447900PMC
May 2017
35 Reads

Thoracic spinal osteochondroma: A rare presentation of spinal cord compression.

Clin Imaging 2017 Sep - Oct;45:18-21. Epub 2017 May 29.

Department of Radiology, Thomas Jefferson University Hospital, Philadelphia, PA, USA.

Osteochondromas are the most common benign bone tumor typically seen in the appendicular skeleton and are rarely found in the spine. We present a case of an osteochondroma of the spine presenting with spinal cord compression. 27-year-old male presented with lower extremity weakness and paresthesia, decreased lower extremity sensation, and decreased proprioception. Read More

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http://dx.doi.org/10.1016/j.clinimag.2017.05.014DOI Listing
April 2018
27 Reads

Extracellular Signal-Regulated Kinase Signaling in CD4-Expressing Cells Inhibits Osteochondromas.

Front Immunol 2017 1;8:482. Epub 2017 May 1.

Department of Immunology, St. Jude Children's Research Hospital, Memphis, TN, USA.

Defects in cartilage homeostasis can give rise to various skeletal disorders including osteochondromas. Osteochondromas are benign bone tumors caused by excess accumulation of chondrocytes, the main cell type of cartilage. The extracellular signal-regulated kinase (ERK) pathway is a major signaling node that functions within chondrocytes to regulate their growth and differentiation. Read More

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http://dx.doi.org/10.3389/fimmu.2017.00482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5410564PMC
May 2017
32 Reads

Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures.

Pediatr Radiol 2017 Jul 10;47(8):1016-1021. Epub 2017 May 10.

Department of Radiology, The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK.

Trichorhinophalangeal syndrome type II is a rare genetic disorder with the few published case reports mainly reporting the radiographic skeletal manifestations. There are no published imaging reports of long bone cysts involving multiple bones in this condition. We report a unique case of bone cysts involving multiple long bones detected with MRI in a patient with trichorhinophalangeal syndrome type II complicated by a subsequent pathological fracture. Read More

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http://dx.doi.org/10.1007/s00247-017-3839-4DOI Listing
July 2017
25 Reads

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.

Curr Osteoporos Rep 2017 06;15(3):142-152

Translational Research Program in Pediatric Orthopaedics, Abramson Research Center, 902D, Division of Orthopaedic Surgery, Department of Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.

Purpose Of Review: Hereditary multiple exostoses (HME) is a complex musculoskeletal pediatric disorder characterized by osteochondromas that form next to the growth plates of many skeletal elements, including long bones, ribs, and vertebrae. Due to its intricacies and unresolved issues, HME continues to pose major challenges to both clinicians and biomedical researchers. The purpose of this review is to describe and analyze recent advances in this field and point to possible targets and strategies for future biologically based therapeutic intervention. Read More

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http://link.springer.com/10.1007/s11914-017-0355-2
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http://dx.doi.org/10.1007/s11914-017-0355-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510481PMC
June 2017
34 Reads