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Multiple Osteochondromas

MedGen UID:: 64625
•Concept ID:: C0206641
•: Neoplastic Process

Synonyms:	Osteochondromatoses; Osteochondromatosis
SNOMED CT:	Osteochondromatosis (66467005); Ecchondrosis (66467005)

Definition

An autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes. Grossly and microscopically, the lesions resemble an osteochondroma. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMultiple Osteochondromas

Neoplasm
- Neoplasm by Special Category
  - Benign neoplasm
    - Benign connective and soft tissue neoplasm
      - Benign chondrogenic neoplasm
        Osteochondroma
        Multiple Osteochondromas
        Multiple congenital exostosis
        Exostoses, multiple, type 2
        Exostoses, multiple, type III
        Multiple digital exostoses
        Multiple long-bone exostoses

Professional guidelines

PubMed

Diagnosis, Management, and Treatment Options: A Cervical Spine Osteochondroma Meta-Analysis.

Fowler J, Takayanagi A, Fiani B, Cathel A, Sarhadi KJ, Arshad M, Lau S, Siddiqi I, Ghanchi H, Wolberg A, Hariri O
World Neurosurg 2021 May;149:215-225.e6. Epub 2021 Feb 6 doi: 10.1016/j.wneu.2021.01.148. PMID: 33561553

Clinical and Functional Outcomes of Ulnar Lengthening in the Treatment of Masada Type I Forearm Deformities in Hereditary Multiple Osteochondromas.

Baghdadi S, Arabi H, Farhoud A, Moharrami A, Baghdadi T
J Hand Surg Am 2020 Sep;45(9):876.e1-876.e7. Epub 2020 Apr 3 doi: 10.1016/j.jhsa.2020.02.010. PMID: 32253060

Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.

Zhu HY, Hu YL, Yang Y, Wu X, Zhu RF, Zhu XY, Duan HL, Zhang Y, Zhou JY
Chin Med J (Engl) 2011 Oct;124(19):3054-7. PMID: 22040554

See all (8)

Recent clinical studies

Etiology

The Impact of Isolated Versus Multiple Osteochondromas: Analysis of the CoULD Registry.

Wessel LE, Goldfarb CA, Vuillermin C, Hutchinson DT, Bohn D, Steinman S, Wall LB; CoULD Study Group
J Pediatr Orthop 2022 Aug 1;42(7):387-392. Epub 2022 Jun 24 doi: 10.1097/BPO.0000000000002167. PMID: 35749762

Multiple hereditary exostoses and enchondromatosis.

Jurik AG
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101505. Epub 2020 Apr 4 doi: 10.1016/j.berh.2020.101505. PMID: 32253147

The role of microRNAs in the biology of rare diseases.

Salvatore M, Magrelli A, Taruscio D
Int J Mol Sci 2011;12(10):6733-42. Epub 2011 Oct 11 doi: 10.3390/ijms12106733. PMID: 22072915 Free PMC Article

Secondary chondrosarcoma.

Lin PP, Moussallem CD, Deavers MT
J Am Acad Orthop Surg 2010 Oct;18(10):608-15. doi: 10.5435/00124635-201010000-00004. PMID: 20889950

Hereditary multiple exostoses and enchondromatosis.

Pannier S, Legeai-Mallet L
Best Pract Res Clin Rheumatol 2008 Mar;22(1):45-54. doi: 10.1016/j.berh.2007.12.004. PMID: 18328980

See all (46)

Diagnosis

Imaging of solitary and multiple osteochondromas: From head to toe - A review.

Pontes ÍCM, Leão RV, Lobo CFT, Paula VT, Yamachira VS, Baptista AM, Helito PVP
Clin Imaging 2023 Nov;103:109989. Epub 2023 Sep 26 doi: 10.1016/j.clinimag.2023.109989. PMID: 37778187

Multiple Hereditary Exostoses.

DuBose CO
Radiol Technol 2016 Jan-Feb;87(3):305-21. quiz 322-5. PMID: 26721841

Secondary chondrosarcoma.

Lin PP, Moussallem CD, Deavers MT
J Am Acad Orthop Surg 2010 Oct;18(10):608-15. doi: 10.5435/00124635-201010000-00004. PMID: 20889950

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W
Hum Mutat 2009 Dec;30(12):1620-7. doi: 10.1002/humu.21123. PMID: 19810120

Multiple osteochondromas.

Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966 Free PMC Article

See all (85)

Therapy

Long-term outcome of total hip arthroplasty in patients with multiple hereditary exostosis.

Labott JR, Heidenreich MJ, Mills GL, Lewallen DG, Houdek MT, Couch CG
Eur J Orthop Surg Traumatol 2024 Feb;34(2):1141-1145. Epub 2023 Nov 17 doi: 10.1007/s00590-023-03780-y. PMID: 37978058

Retinoid roles and action in skeletal development and growth provide the rationale for an ongoing heterotopic ossification prevention trial.

Pacifici M
Bone 2018 Apr;109:267-275. Epub 2017 Aug 19 doi: 10.1016/j.bone.2017.08.010. PMID: 28826842 Free PMC Article

COX-2 expression in chondrosarcoma: a role for celecoxib treatment?

Schrage YM, Machado I, Meijer D, Briaire-de Bruijn I, van den Akker BE, Taminiau AH, Kalinski T, Llombart-Bosch A, Bovée JV
Eur J Cancer 2010 Feb;46(3):616-24. Epub 2009 Dec 11 doi: 10.1016/j.ejca.2009.11.002. PMID: 20004565

The association between ulnar length and forearm movement in patients with multiple osteochondromas.

Watts AC, Ballantyne JA, Fraser M, Simpson AH, Porter DE
J Hand Surg Am 2007 May-Jun;32(5):667-73. doi: 10.1016/j.jhsa.2007.02.008. PMID: 17482006

Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas.

Hameetman L, David G, Yavas A, White SJ, Taminiau AH, Cleton-Jansen AM, Hogendoorn PC, Bovée JV
J Pathol 2007 Mar;211(4):399-409. doi: 10.1002/path.2127. PMID: 17226760

See all (11)

Prognosis

The Impact of Isolated Versus Multiple Osteochondromas: Analysis of the CoULD Registry.

Multiple cartilaginous exostoses and development of chondrosarcomas--a systematic review.

Sonne-Holm E, Wong C, Sonne-Holm S
Dan Med J 2014 Sep;61(9):A4895. PMID: 25186537

The role of microRNAs in the biology of rare diseases.

Salvatore M, Magrelli A, Taruscio D
Int J Mol Sci 2011;12(10):6733-42. Epub 2011 Oct 11 doi: 10.3390/ijms12106733. PMID: 22072915 Free PMC Article

Secondary chondrosarcoma.

Lin PP, Moussallem CD, Deavers MT
J Am Acad Orthop Surg 2010 Oct;18(10):608-15. doi: 10.5435/00124635-201010000-00004. PMID: 20889950

Multiple osteochondromas.

Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966 Free PMC Article

See all (25)

Clinical prediction guides

Pain and fatigue in adult patients with multiple osteochondromas: The Netherlands.

Amajjar I, Vergauwen K, Willigenburg NW, Ham SJ, Smeets RJEM
PLoS One 2024;19(7):e0305640. Epub 2024 Jul 17 doi: 10.1371/journal.pone.0305640. PMID: 39018287 Free PMC Article

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.

Caino S, Cubilla MA, Alba R, Obregón MG, Fano V, Gómez A, Zecchini L, Lapunzina P, Aza-Carmona M, Heath KE, Asteggiano CG
Genes (Basel) 2022 Nov 7;13(11) doi: 10.3390/genes13112063. PMID: 36360300 Free PMC Article

The Impact of Isolated Versus Multiple Osteochondromas: Analysis of the CoULD Registry.

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

Santos SCL, Rizzo IMPO, Takata RI, Speck-Martins CE, Brum JM, Sollaci C
Mol Genet Genomic Med 2018 May;6(3):382-392. Epub 2018 Mar 12 doi: 10.1002/mgg3.382. PMID: 29529714 Free PMC Article

Hereditary multiple exostoses and enchondromatosis.

Pannier S, Legeai-Mallet L
Best Pract Res Clin Rheumatol 2008 Mar;22(1):45-54. doi: 10.1016/j.berh.2007.12.004. PMID: 18328980

See all (37)

Recent systematic reviews

Multiple cartilaginous exostoses and development of chondrosarcomas--a systematic review.

Sonne-Holm E, Wong C, Sonne-Holm S
Dan Med J 2014 Sep;61(9):A4895. PMID: 25186537

See all (1)

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Multiple Osteochondromas

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

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