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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]

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

Recent clinical studies

Etiology

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: 22072915Free 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
Manifestations of hereditary multiple exostoses.
Stieber JR, Dormans JP
J Am Acad Orthop Surg 2005 Mar-Apr;13(2):110-20. doi: 10.5435/00124635-200503000-00004. PMID: 15850368

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: 18271966Free PMC Article

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: 28826842Free 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

Prognosis

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 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: 22072915Free 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: 18271966Free PMC Article

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: 39018287Free 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: 36360300Free PMC Article
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
Surgical outcomes of spinal osteochondroma in children: A multicentre observational study.
Assan BR, Simon AL, Violas P, Sales de Gauzy J, Thepaut M, Ould-Slimane M, Pesenti S, Odent T, Glorion C, Pannier S, Ilharreborde B
Orthop Traumatol Surg Res 2022 Oct;108(6):103239. Epub 2022 Feb 9 doi: 10.1016/j.otsr.2022.103239. PMID: 35150927
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

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

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