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Journal of Vascular Surgery Mar 2000Osteochondromas are the most common benign tumor of the bone. They are sometimes responsible for vascular complications involving either veins or arteries, principally... (Review)
Review
PURPOSE
Osteochondromas are the most common benign tumor of the bone. They are sometimes responsible for vascular complications involving either veins or arteries, principally around the knee.
METHODS
We report six cases of such complications. An extensive review of literature through a computerized research was performed.
RESULTS
We found 97 cases that were previously reported in the English literature giving sufficient details and providing data on 103 cases for analysis.
CONCLUSION
Surgical treatment of vascular complications of osteochondromas is recommended as an urgent procedure to avoid irreversible damages, such as arterial occlusion, embolism, or phlebitis. Prophylactic resection of osteochondromas in the vicinity of a vessel must be performed.
Topics: Adult; Aneurysm, False; Exostoses, Multiple Hereditary; Female; Femoral Neoplasms; Humans; Male; Osteochondroma; Popliteal Artery; Popliteal Vein; Venous Thrombosis
PubMed: 10709067
DOI: No ID Found -
Joint Diseases and Related Surgery 2022In this study, we present a specified hinge positioning method to achieve satisfying and steerable lengthening and angulation to correct forearm multiple hereditary...
OBJECTIVES
In this study, we present a specified hinge positioning method to achieve satisfying and steerable lengthening and angulation to correct forearm multiple hereditary exostoses (MHE) combined with severe radiocapitellar joint dislocation using Ilizarov ring fixators.
PATIENTS AND METHODS
Between January 2014 and December 2018, a total of 30 forearms of 23 patients (11 males, 12 females; mean age: 18.3±6.8 years; range, 8 to 35 years) who suffered from type IIa (n=2) or IIb (n=28) MHE with severe radiocapitellar joint luxation were retrospectively analyzed. All patients were treated with Ilizarov external fixators with our specified hinge positioning method. Range of motion of the elbow, forearm and wrist and Visual Analog Scale (VAS), as well as Disabilities of Arm, Shoulder, and Hand (DASH) score, and radiological parameters, including radial articular angle (RAA), ulnar variance (UV) and carpi slip (CS), were recorded preoperatively and at final follow-up and were compared.
RESULTS
Clinical and radiological outcomes were evaluated. Range of motion of the elbow, forearm and wrist, VAS, DASH and radiological features, including RAA, CS, and UV were significantly improved, except for range of motion of the forearm supination. Temporary nail track infection was seen in two of the forearms and was controlled with oral antibiotics. None of the patients developed radial head dislocation again.
CONCLUSION
Clinical and radiological outcomes of this novel hinge positioning method are satisfactory in treating MHE with severe radial head dislocation, and this method can be an alternative treatment for MHE by setting a milestone for accurate radiocapitellar joint reduction.
Topics: Adolescent; Adult; Child; Exostoses, Multiple Hereditary; Female; Humans; Joint Dislocations; Male; Radius; Retrospective Studies; Ulna; Young Adult
PubMed: 35361079
DOI: 10.52312/jdrs.2022.502 -
Journal of Medical Genetics Apr 1991
Topics: Adult; Diagnosis, Differential; Exostoses, Multiple Hereditary; Humans; Incidence; Langer-Giedion Syndrome; Male; Radiography; United Kingdom
PubMed: 1856833
DOI: 10.1136/jmg.28.4.262 -
American Journal of Human Genetics Sep 1964
Topics: Biological Transport; Carbohydrate Metabolism; Consanguinity; England; Exostoses; Exostoses, Multiple Hereditary; Family; Fluids and Secretions; Genetics, Medical; Glycosaminoglycans; Radiography; Statistics as Topic; Urine
PubMed: 14207550
DOI: No ID Found -
BMJ Case Reports Feb 2018A 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...
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. He had skeletal dysplasia with metabolic bone disease and episodes of hyperthermia with lactic acidosis. He also had paroxysmal ventricular tachycardia treated with prophylactic propranolol. This is a case report of a child with SWS who had a febrile illness and epileptic seizures which led to severe rhabdomyolysis outside the context of anaesthesia, and we would like to draw the attention of clinicians to this potential complication.
Topics: Abnormalities, Multiple; Acute Kidney Injury; Alanine Transaminase; Creatine Kinase; Exostoses, Multiple Hereditary; Fever; Frameshift Mutation; Head; Humans; Infant; Intensive Care Units, Pediatric; Leukemia Inhibitory Factor Receptor alpha Subunit; Male; Osteochondrodysplasias; Respiratory Insufficiency; Resuscitation; Rhabdomyolysis; Seizures
PubMed: 29437806
DOI: 10.1136/bcr-2017-222863 -
Children (Basel, Switzerland) Jun 2021The hip joint involvement in multiple hereditary exostoses (MHE) occurs in 30-90%, causing pain and limitation of motion by femoroacetabular impingement, coxa valga,...
The hip joint involvement in multiple hereditary exostoses (MHE) occurs in 30-90%, causing pain and limitation of motion by femoroacetabular impingement, coxa valga, acetabular dysplasia, hip joint subluxation, and osteoarthritis. The purpose of this study was to investigate the clinical and radiographic outcomes of ten hips in seven patients treated by surgical dislocation and corrective osteotomies between 2004 and 2009. Surgical dislocation and excision of the osteochondromas and varus intertrochanteric osteotomies were performed in all cases when the neck-shaft angle was > 150°. Common sites of osteochondromas were medial, posterior, and anterior neck of the femur. Neck-shaft angle of the femur was improved from a mean of 157° to 139°, postoperatively. On an average, the center-edge angle improved from 20° to 30° postoperatively. We believe that Ganz's safe surgical dislocation technique is the preferred treatment of MHE. This safeguards the circulation of the femoral head and the osteochondromas can be resected under direct vision. It can be combined with additional corrective osteotomies because the hip affected by MHE is frequently associated with dysplastic changes which can result in premature osteoarthritis.
PubMed: 34201373
DOI: 10.3390/children8060490 -
International Orthopaedics Aug 2013Frequent benign outgrowths from bone known as osteochondromas, exhibiting typical endochondral ossification, are reported from single to multiple lesions. Characterised... (Review)
Review
Frequent benign outgrowths from bone known as osteochondromas, exhibiting typical endochondral ossification, are reported from single to multiple lesions. Characterised by a high incidence of osteochondromas and skeletal deformities, multiple hereditary exostoses (MHE) is the most common inherited musculoskeletal condition. While factors for severity remain unknown, mutations in exostosin 1 and exostosin 2 genes, encoding glycosyltransferases involved in the biosynthesis of ubiquitously expressed heparan sulphate (HS) chains, are associated with MHE. HS-binding bone morphogenetic proteins (BMPs) are multifunctional proteins involved in the morphogenesis of bone and cartilage. HS and HS proteoglycans are involved in BMP-mediated morphogenesis by regulating their gradient formation and activity. Mutations in exostosin genes disturb HS biosynthesis, subsequently affecting its functional role in the regulation of signalling pathways. As BMPs are the primordial morphogens for bone development, we propose the hypothesis that BMP signalling may be critical in osteochondromas. For this reason, the outcomes of exostosin mutations on HS biosynthesis and interactions within osteochondromas and MHE are reviewed. Since BMPs are HS binding proteins, the interactions of HS with the BMP signalling pathway are discussed. The impact of mouse models in the quest to better understand the cell biology of osteochondromas is discussed. Several challenges and questions still remain and further investigations are needed to explore new approaches for better understanding of the pathogenesis of osteochondromas.
Topics: Animals; Bone Morphogenetic Proteins; Bone Neoplasms; Disease Models, Animal; Heparitin Sulfate; Humans; Mice; Mutation; N-Acetylglucosaminyltransferases; Osteochondroma; Signal Transduction
PubMed: 23771188
DOI: 10.1007/s00264-013-1906-5 -
Orphanet Journal of Rare Diseases Apr 2022Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer... (Review)
Review
BACKGROUND
Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first systematic review of all previous published cases.
OBJECTIVE
To better describe the timeline of SWS and to improve paediatric management.
DATA SOURCES
SWS English publications available on Pubmed until 31/03/2021.
STUDY SELECTION
Case description combining typical osteo-articular and dysautonomic involvement (with 2 items by categories required for children < 2 years and 3 items > 2 years).
DATA EXTRACTION
Demographic, clinical, genetics and outcome data.
RESULTS
In our cohort of 69 patients, the median age at report was 32 months. Only 46% presented antenatal signs. Mortality rate is higher during the first 2 years (42% < 2 years; 10% > 2 years) mainly due to respiratory failure, pulmonary arterial hypertension appearing to be a poor prognosis factor (mortality rate 63%). After 2 years, orthopaedic symptoms significantly increase including joint mobility restriction (81%), spinal deformations (77%) and fractures (61%).
CONCLUSIONS
Natural history of SWS is marked by a high mortality rate before 2 years due to dysautonomic disturbances. A specialized multidisciplinary approach is needed to address these early mortality risks and then adapt to the specific, mainly orthopaedic, needs of patients after 2 years of age. Further research is required to provide clinical guidelines and improve pre-natal counselling.
Topics: Abnormalities, Multiple; Child; Exostoses, Multiple Hereditary; Female; Humans; Osteochondrodysplasias; Pregnancy; Respiratory Insufficiency
PubMed: 35461249
DOI: 10.1186/s13023-022-02323-8 -
Diagnostic and Interventional Radiology... Mar 2023Apart from a few case reports, sacroiliac joint (SIJ) involvement in osteochondromatosis has not been studied. We aimed to determine the prevalence and characteristics...
PURPOSE
Apart from a few case reports, sacroiliac joint (SIJ) involvement in osteochondromatosis has not been studied. We aimed to determine the prevalence and characteristics of such involvement using cross-sectional imaging.
METHODS
In this retrospective study, three observers (one junior radiologist and two musculoskeletal radiologists) independently reviewed computed tomography (CT) or magnetic resonance imaging (MRI) of patients in our database who had osteochondromatosis (≥2 osteochondromas across the skeleton) for SIJ involvement. The final decision was reached by the consensus of the two musculoskeletal radiologists in a later joint session.
RESULTS
Of the 36 patients with osteochondromatosis in our database, 22 (61%) had cross-sectional imaging covering SIJs (14 females, 8 males; age range 7-66 years; mean age 23 years; 13 MRI, 9 CT). Of these, 16 (73%) had intra-articular osteochondromas. For identifying SIJ osteochondromas on cross-sectional imaging, interobserver agreement was substantial [κ = 0.67; 95% confidence interval (CI): 0.34, 1.00] between the musculoskeletal radiologists and moderate (κ = 0.59; 95% CI: 0.23, 0.94) between the junior radiologist and the final consensus decision of the two musculoskeletal radiologists. In the cohort with cross-sectional imaging, the anatomical variations of the accessory SIJ (n = 6, 27%) and iliosacral complex (n = 2, 9%) were identified in six different patients with (n = 2) and without (n = 4) sacroiliac osteochondromas.
CONCLUSION
Cross-sectional imaging shows frequent (73%) SIJ involvement in osteochondromatosis, which, although a rare disorder, nevertheless needs to be considered in the differential diagnosis of such SIJ anatomical variants as the accessory SIJ and iliosacral complex. Differentiating these variants from osteochondromas is challenging in patients with osteochondromatosis.
Topics: Male; Female; Humans; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Sacroiliac Joint; Prevalence; Retrospective Studies; Magnetic Resonance Imaging; Osteochondromatosis; Osteochondroma
PubMed: 36988050
DOI: 10.5152/dir.2022.211018 -
Annals of Saudi Medicine 2014Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as...
Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as osteopoikilosis, soft tissue vascular malformations, bone and soft tissue tumors, nephrotic syndrome, segmental limb contractures, osteosarcoma, desmoid tumor, and mesenteric fibromatosis. Synovial osteochondromatosis is a benign neoplasia of the hyaline cartilage presenting as nodules in the subsynovial tissue of a joint or tendon sheath. The intra-articular extension of melorheostosis mimicking synovial osteochondromatosis has not been reported before. In this article, the authors describe an unusual case mimicking synovial chondromatosis arising as a result of melorheostosis and their characteristic imaging findings.
Topics: Chondromatosis, Synovial; Diagnosis, Differential; Female; Humans; Knee Joint; Magnetic Resonance Imaging; Melorheostosis; Middle Aged
PubMed: 25971832
DOI: 10.5144/0256-4947.2014.547