multiple osteochondromas
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2021 ◽  
Vol 12 ◽  
Author(s):  
Ewelina Bukowska-Olech ◽  
Wiktoria Trzebiatowska ◽  
Wiktor Czech ◽  
Olga Drzymała ◽  
Piotr Frąk ◽  
...  

Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or osteochondromas, that locate most commonly in the juxta-epiphyseal portions of long bones. Affected individuals usually complain of persistent pain caused by the pressure on neighboring tissues, disturbance of blood circulation, or rarely by spinal cord compression. However, the most severe complication of this condition is malignant transformation into chondrosarcoma, occurring in up to 3.9% of HMEs patients. The disease results mainly from heterozygous loss-of-function alterations in the EXT1 or EXT2 genes, encoding Golgi-associated glycosyltransferases, responsible for heparan sulfate biosynthesis. Some of the patients with HMEs do not carry pathogenic variants in those genes, hence the presence of somatic mutations, deep intronic variants, or another genes/loci is suggested. This review presents the systematic analysis of current cellular and molecular concepts of HMEs along with clinical characteristics, clinical and molecular diagnostic methods, differential diagnosis, and potential treatment options.


Author(s):  
Vaishnavi Thakare ◽  
Pratik Phansopkar ◽  
Neha Chitale

Introduction: The most prevalent benign tumour affecting the metaphysis of long bone is osteochondroma, a form of cartilaginous tumour. Solitary or multiple osteochondromas can prevail.Hereditary multiple exostosis (HME) or familial osteochondromatosis is the multiple variant, which is an autosomal dominant syndrome. Case Presentation: A 35-year old female with right-hand dominance was referred todepartment of physiotherapy. On palpation small nodular swelling of marble size was present in left axilla. X-rays findings showed increased scapular mass and ribs were compressed laterally. Discussion: The most widespread benign tumour is osteochondroma. In 3.0-6.4 percent of all instances, the scapula is implicated. The osteochondroma normally develops on the scapula's anterior aspect. The scapula osteochondroma induces pain and a grating sound when the scapula is moved. Mechanic irritation of muscle, tendon, or soft tissue, emergence of a pseudoaneurysm or bursa, fracture, or malignant transformation are all causes of symptoms. Conclusion: Osteochondroma is a common benign tumor. Management of osteochondroma is important to improve the quality of life. Physiotherapy plays an important role in managing Scapular osteochondroma.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Ge Yan ◽  
Guoxin Nan

Abstract Purpose Approximately 30% of patients with hereditary multiple osteochondromas (HMO) have forearm deformity and dysfunction. The aim of this retrospective study was to review our experience with the surgical treatment of children with HMO and Masada IIb forearm deformities. Methods Data of eight children treated for HMO Masada IIb forearm deformity at our hospital between 2015 and 2019 were collected from the hospital records and retrospectively reviewed. All patients underwent ulnar lengthening by distraction osteogenesis using either the Orthofix or Ilizarov external fixator. Range of movements at the elbow and wrist joints, and forearm supination/pronation, before and after the operation were recorded. Radiographs were evaluated by the Fogel method, and wrist joint function by the Krimmer method. Results Follow-up radiographs showed significant improvement in relative ulnar shortening after treatment (pre-operative 9.23 ± 5.21 mm; post-operative 0.33 ± 4.13 mm). Changes in radial articular angle (pre-operative 33.55° ± 3.88° to 32.78° ± 6.57°) and carpal slip (pre-operative 45.00% ± 19.09%; post-operative 43.13% ± 16.68%) were not significant. Elbow flexion and extension, wrist flexion and extension, ulnar and radial deviation at wrist, and forearm rotation were significantly improved after surgery. Wrist function was graded as excellent in seven patients and as good in one patient. One patient treated with the Ilizarov external fixator had poor radial head reduction. Conclusion Ulnar lengthening with distraction osteogenesis is an effective treatment for HMO Masada IIb deformities. The optimum site for ulnar osteotomy appears to be at the proximal one-third to one-fourth of the ulna.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
Christiaan Scott ◽  
Frederick S Kaplan ◽  
Clive Friedman ◽  
Patricia Delai ◽  
Mona Al Mukaddam ◽  
...  

Abstract   While looking for one, you may find another: Tin Soldiers and the search for undiagnosed individuals with Fibrodysplasia Ossificans Progressiva (FOP) Background FOP is an ultra-rare condition where heterozygous, gain-of-function missense mutations in the ACVR1 gene result in progressive heterotopic bone formation in ligaments, tendons and muscles and result in severe disability.1 FOP has an estimated incidence of 0.6–1.3 per million individuals 2,3 suggesting that currently there are ∼8000 patients living with FOP worldwide, however only about 900 patients are currently diagnosed worldwide The diagnosis is made clinically by identification of typical malformations of the great toes as well as inflammatory swellings (flare-ups) that result in progressive and episodic ossification of soft connective tissues, often triggered by trauma.4 Muscle biopsies, though contraindicated, are frequently performed mistakenly during the course of diagnosis, as FOP is not a well-known condition. There is an urgent need to identify individuals with FOP across the globe in order to avoid harmful biopsies and to provide a pathway to care for patients with FOP. Tin Soldiers is a global FOP patient search program utilizing multimedia campaigns aimed at educating and bringing attention to FOP, to find individuals across the globe and to connect them to pathways of care. The mission is to identify every person with FOP who is currently undiagnosed, as well as to deliver education and support to those living with a diagnosis, but not connected to support networks. Once found, all people living with FOP are connected to pathways to care. The aim is to describe the Tin Soldiers global FOP patient search program approach and report early results of the program. Methods Tin Soldiers creates multimedia campaigns to create awareness and to educate medical professionals, healthcare workers, general public and local communities on FOP. At the heart of the communication program is story-telling of people living with FOP, from a feature-length documentary to public service announcements, animated short films and an 8-part Global Master Series—all designed to bring attention to FOP in order to find patients and provide a pathway to diagnosis and care. Importantly diagnosis is not the end of the journey, it’s just the beginning. Results Since official operations commenced in March 2020, Tin Soldiers has trained 535 medical professionals; established an African Clinicians Council of 10 doctors with the intention of mentoring others across the continent; increased the number of African patients with a diagnosis from 25 patients in December 2020–32 in April 2021. Connected previously diagnosed (but not connected) patients to a robust support network and held the first African FOP Family Gathering with clinicians from both South Africa and Nigeria. On the journey, patients with other conditions have been discovered including Juvenile Idiopathic Arthritis (JIA), Progressive Osseus Heteroplasia (POH) and Multiple Osteochondromas (MO). These patients have been diagnosed and connected to both medical care and patient support. Another important outcome is the continued education of doctors globally with the uptake of the CME Master Series in Russia and planned rollouts in Algeria, Nigeria, Kenya, Namibia, Sweden (in partnership with the national patient organization) and Brazil (under the First Lady’s patronage). Conclusion Tin Soldiers offers an innovative model of patient identification, diagnosis, support and education at all levels of care, using the power of story-telling and multi-media marketing. Such a model could be considered for raising the profile of other musculoskeletal or rare conditions and connecting patients to a functioning pathway to care.


2021 ◽  
Author(s):  
yanhan deng ◽  
yujian liu ◽  
wei tu ◽  
liu yang

Abstract Background: Hereditary Multiple Osteochondromas(HMO) is a rare genetic musculoskeletal disorder characterized by multiple osteochondromas that form near to the growth plates of many bones. Loss-of-function mutations in EXT1 or EXT2 that encode glycosyltrasferases are the causal mutations for most HMO patients.Methods: After collecting the family history and clinical information, we used Whole-Exome Sequencing to find the pathogenic mutations in one Chinese Hereditary Multiple Exostoses pedigree. Sanger sequencing and relevant online databases were used to validate the screened variants. Lollipop plots were drew to map the reported mutations from online databases (Multiple Osteochondroma Mutation Database and clinvar)on a linear protein domains by MutationMapper.Results: A novel heterozygous splicing-site mutation in gene EXT1 (NM_000127:exon5:c.1417+1G>C,chr8:118834703) was found in this pedigree and mutation spectrum of genes EXT1 and EXT2 were demonstrated.Conclusions: Our results help this pedigree to identify the pathogenic variant and guide the prenatal diagnosis, also expand the mutation spectrum in Hereditary Multiple Osteochondromas.


2021 ◽  
Author(s):  
Ge Yan ◽  
Guoxin Nan

Abstract Purpose: Approximately 30% of patients with hereditary multiple osteochondromas (HMO) have forearm deformity and dysfunction. The aim of this retrospective study was to review our experience with the surgical treatment of children with HMO and Masada IIb forearm deformities.Methods: Data of eight children treated for HMO Masada IIb forearm deformity at our hospital between 2015 and 2019 were collected from the hospital records and retrospectively reviewed. All patients underwent ulnar lengthening by distraction osteogenesis using either the Orthofix or Ilizarov external fixator. Range of movements at the elbow and wrist joints, and forearm supination/pronation, before and after the operation were recorded. Radiographs were evaluated by the Fogel method, and wrist joint function by the Krimmer method.Results: Follow-up radiographs showed significant improvement in relative ulnar shortening after treatment (pre-operative 9.23 ± 5.21 mm; post-operative 0.33 ± 4.13 mm). Changes in radial articular angle (pre-operative 33.55° ± 3.88° to 32.78° ± 6.57°) and carpal slip (pre-operative 45.00% ± 19.09%; post-operative 43.13% ± 16.68%) were not significant. Elbow flexion and extension, wrist flexion and extension, ulnar and radial deviation at wrist, and forearm rotation were significantly improved after surgery. Wrist function was graded as excellent in seven patients and as good in one patient. One patient treated with the Ilizarov external fixator had poor radial head reduction.Conclusion: Ulnar lengthening with distraction osteogenesis is an effective treatment for HMO Masada IIb deformities. The optimum site for ulnar osteotomy appears to be at the proximal one-third to one-fourth of the ulna.


Author(s):  
Marina Mordenti ◽  
Maria Gnoli ◽  
Manila Boarini ◽  
Giovanni Trisolino ◽  
Andrea Evangelista ◽  
...  

BMJ Open ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. e049418
Author(s):  
Ihsane Amajjar ◽  
Romana Malik ◽  
Marieke van Wier ◽  
Rob Smeets ◽  
S John Ham

ObjectivesMultiple osteochondromas (MO) is a rare hereditary disease characterised by numerous benign bone tumours. Its chronic aspect requires a well-organised transition from paediatric care to adult care; however, little is known on organising this care specific for patients with MO. This study aims to gain insight on this topic.DesignConvergent mixed-method study.SettingThis study was conducted at the orthopaedic and paediatrics department of an MO-expertise centre in the Netherlands.Participants12 patients, 10 parents and 10 healthcare professionals were interviewed. An additional survey was completed by 2 young adults.Primary and secondary outcomesThe (1) themes on transition, identified through template analysis and (2) transfer experience and satisfaction assessed by an 18-item On Your Own Feet-Transfer Experience Scale (OYOF-TES, range: 18–90) and by Numeric Rating Scale (NRS, range: 1–10).ResultsThe following three key themes were identified in the qualitative analysis: (1) patient and parent in the lead can be encouraged by self-management tools, (2) successful transfers need interprofessional collaboration and communication and (3) how can we prepare patients for the transitional process? Stakeholders’ insights to improve transition were listed and divided into these three themes.Several important aspects were underlined, particularly within the first theme; speaking-up was difficult for patients especially when parents were not directly involved. Moreover, the high psychological impact of the disease requires coaching of self-management and psychological counselling to facilitate stakeholders in their changing roles.Twenty patients completed the quantitative survey. Mean satisfaction score with the transfer process was poor, which was assessed with the NRS (mean=5.7±2.1; range: 1–9) and the OYOF-TES (mean=56.3±14.2; range: 32–85). The OYOF-TES only showed a negative correlation (R2=0.25; p=0.026) with the number of surgical interventions in the past.ConclusionOverall, the transfer process was found unsatisfactory. Improvement can be achieved by supporting and guiding the patients to be in the lead of their care. Moreover, preparation for transfer and a multidisciplinary approach may enhance successful transition.


2021 ◽  
Vol 25 (5) ◽  
pp. 361-367
Author(s):  
Yu Tong ◽  
Junchao Luo ◽  
Yin Zhang ◽  
Zheping Hong ◽  
Li Cao ◽  
...  

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