Literature DB >> 31448184

Hereditary multiple exostoses: are there new plausible treatment strategies?

Maurizio Pacifici1.   

Abstract

INTRODUCTION: Hereditary multiple exostoses (HME) is a rare congenital pediatric disorder characterized by osteochondromas forming next to the growth plates in young patients. The osteochondromas cause multiple health problems that include skeletal deformities and chronic pain. Surgery is used to remove the most symptomatic osteochondromas but because of their large number, many are left in place, causing life-long problems and increasing the probability of malignant transformation. There is no other treatment to prevent or reduce osteochondromas formation at present. AREAS COVERED: Recent studies reviewable through PubMed are providing new insights into cellular and molecular mechanisms of osteochondroma development. The resulting data are suggesting rational and plausible new therapeutic strategies for osteochondroma prevention some of which are being tested in HME animal models and one of which is part of a just announced clinical trial. EXPERT COMMENTARY: This section summarizes and evaluates such strategies and points also to possible future alternatives.

Entities:  

Keywords:  Drug treatment; EXT1; EXT2; Heparan Sulfate; Hereditary Multiple Exostoses; Multiple Osteochondroma; Multiple Osteochondromas; Signaling proteins; Signaling proteins and pathways

Year:  2018        PMID: 31448184      PMCID: PMC6707746          DOI: 10.1080/21678707.2018.1483232

Source DB:  PubMed          Journal:  Expert Opin Orphan Drugs        ISSN: 2167-8707            Impact factor:   0.694


  76 in total

1.  Action range of BMP is defined by its N-terminal basic amino acid core.

Authors:  Bisei Ohkawara; Shun-ichiro Iemura; Peter ten Dijke; Naoto Ueno
Journal:  Curr Biol       Date:  2002-02-05       Impact factor: 10.834

Review 2.  Molecular properties and involvement of heparanase in cancer metastasis and angiogenesis.

Authors:  I Vlodavsky; Y Friedmann
Journal:  J Clin Invest       Date:  2001-08       Impact factor: 14.808

Review 3.  The neoplastic pathogenesis of solitary and multiple osteochondromas.

Authors:  D E Porter; A H Simpson
Journal:  J Pathol       Date:  1999-06       Impact factor: 7.996

4.  EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Authors:  J V Bovée; A M Cleton-Jansen; W Wuyts; G Caethoven; A H Taminiau; E Bakker; W Van Hul; C J Cornelisse; P C Hogendoorn
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

5.  Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

Authors:  P K Cheung; C McCormick; B E Crawford; J D Esko; F Tufaro; G Duncan
Journal:  Am J Hum Genet       Date:  2001-06-05       Impact factor: 11.025

Review 6.  Manifestations of hereditary multiple exostoses.

Authors:  Jonathan R Stieber; John P Dormans
Journal:  J Am Acad Orthop Surg       Date:  2005 Mar-Apr       Impact factor: 3.020

7.  Distinguishing the contributions of the perichondrium, cartilage, and vascular endothelium to skeletal development.

Authors:  Céline Colnot; Chuanyong Lu; Diane Hu; Jill A Helms
Journal:  Dev Biol       Date:  2004-05-01       Impact factor: 3.582

8.  Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.

Authors:  D E Porter; L Lonie; M Fraser; C Dobson-Stone; J R Porter; A P Monaco; A H R W Simpson
Journal:  J Bone Joint Surg Br       Date:  2004-09

9.  Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification.

Authors:  Lydia Koziel; Melanie Kunath; Olivia G Kelly; Andrea Vortkamp
Journal:  Dev Cell       Date:  2004-06       Impact factor: 12.270

10.  Requirement for RAR-mediated gene repression in skeletal progenitor differentiation.

Authors:  Andrea D Weston; Roshantha A S Chandraratna; Joseph Torchia; T Michael Underhill
Journal:  J Cell Biol       Date:  2002-07-08       Impact factor: 10.539

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  4 in total

1.  Osteochondroma formation is independent of heparanase expression as revealed in a mouse model of hereditary multiple exostoses.

Authors:  Christina Mundy; Juliet Chung; Eiki Koyama; Stuart Bunting; Rajeev Mahimkar; Maurizio Pacifici
Journal:  J Orthop Res       Date:  2022-01-22       Impact factor: 3.102

Review 2.  Fibrodysplasia ossificans progressiva (FOP): A disorder of osteochondrogenesis.

Authors:  Frederick S Kaplan; Mona Al Mukaddam; Alexandra Stanley; O Will Towler; Eileen M Shore
Journal:  Bone       Date:  2020-07-27       Impact factor: 4.398

3.  Hinge positioning method of Ilizarov apparatus in correcting radial head luxation caused by multiple hereditary exostoses.

Authors:  Rui Zhang; Xiaoyu Wang; Shenghe Liu; Hongjiang Ruan; Jia Xu; Qinglin Kang
Journal:  Jt Dis Relat Surg       Date:  2022-03-28

Review 4.  Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies.

Authors:  Ewelina Bukowska-Olech; Wiktoria Trzebiatowska; Wiktor Czech; Olga Drzymała; Piotr Frąk; Franciszek Klarowski; Piotr Kłusek; Anna Szwajkowska; Aleksander Jamsheer
Journal:  Front Genet       Date:  2021-12-10       Impact factor: 4.599

  4 in total

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