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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

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
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
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

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
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
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
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
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

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
DuBose CO
Radiol Technol 2016 Jan-Feb;87(3):305-21. quiz 322-5. PMID: 26721841
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
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
Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966Free PMC Article

Therapy

Vu CL, Lindberg AW, Bompadre V, White KK, Bauer JM
Spine Deform 2020 Oct;8(5):1069-1074. Epub 2020 May 4 doi: 10.1007/s43390-020-00130-4. PMID: 32367382
Li X, Song Y, Wang J
Medicine (Baltimore) 2019 Jul;98(29):e16503. doi: 10.1097/MD.0000000000016503. PMID: 31335720Free PMC Article
Pacifici M
Bone 2018 Apr;109:267-275. Epub 2017 Aug 19 doi: 10.1016/j.bone.2017.08.010. PMID: 28826842Free PMC Article
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
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

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

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
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
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
Cho YJ, Lee JY, Lee WG, Jung ST
Clin Orthop Surg 2020 Dec;12(4):549-553. Epub 2020 Nov 18 doi: 10.4055/cios19121. PMID: 33274034Free PMC Article
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

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

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