Caso clínico: Osteocondromatosis múltiple hereditaria en una familia (Multiple hereditary osteochondromatosis in a family)
Author links open overlay panel Jesús Santos-Guzmán,Consuelo Cantú-Reyna, Ignacio Cano-Muñoz, Ana Karen Pulido-Ayala, Adrián García.
Resumen
Introducción
La osteocondromatosis múltiple hereditaria (OMC) se caracteriza por el crecimiento de múltiples tumores benignos, cartilaginosos, que crecen en forma de exostosis predominantemente en las metáfisis de los huesos largos. Se ha descrito una prevalencia de 1/50,000 individuos.
Referencias
W. Wuyts, G.A. Schmale, H.A. Chansky, W.H. Raskind Hereditary multiple osteochondromas
R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J. Bean, et al. (Eds.), Gene Reviews® [Internet], University of Washington, Seattle, Seattle (WA) (1993-2015)
Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK1235/
Google Scholar2,
Khan AN. Imaging in osteochondroma and osteochondromatosis. Medscape. (Acceso: 18-08-2015). Disponible en: http://emedicine.medscape.com/article/392546-overview
Google Scholar 3
J. Hunter, Lectures on the Principles of Surgery, Haswell, Barrington and Haswell Publishers, Philadelphia (1839), pp. 299-302
Disponible en: https://archive.org/stream/56830620R.nlm.nih.gov/56830620R#page/n0/mode/1up
Google Scholar 4
G.A. Schmale, E.U. Conrad 3rd, W.H. Raskind The natural history of hereditary multiple exostoses. J Bone Joint Surg Am., 76 (1994), pp. 986-992
Disponible en: http://jbjs.org/content/76/7/986
Cross Ref View Record in Scopus Google Scholar 5
G. Duncan, C. McCormick, F. Tufaro, The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. J Clin Invest., 108 (2001), pp. 511-516, 10.1172/JCI13737
Disponible en: http://www.jci.org/articles/view/13737
View Record in Scopus Google Scholar 6
J.A. Morcuende, M.B. DobbsIdiopathic and heritable disorders
S.L. Weinstein, J.A. Buckwalter (Eds.), Turek's Orthopaedics: Principles and Their Application., 9780781742986, Lippincott Williams & Wilkins, Philadelphia (2005), pp. 245-266
View Record in Scopus Google Scholar 7
I. Jennes, E. Pedrini, M. Zuntini, M. Mordenti, S. Balkassmi, C.G. Asteggiano, et al.Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)
Hum Mutat., 30 (2009), pp. 1620-1627, 10.1002/humu.21123
Cross Ref View Record in Scopus Google Scholar 8
W. Heinritz, U. Hüffmeier, S. Strenge, B. Miterski, C. Zweier, S. Leinung, et al.New mutations of EXT1 and EXT2 genes in German patients with multiple osteochondromas, Ann Hum Genet., 73 (2009), pp. 283-291
Cross Ref View Record in Scopus Google Scholar 9
J.S. Binetti, R.M. Barrera, D. Labayén Osteocondromatosis múltiple hereditaria. Revista HPC., 4 (1 y 2) (2001), pp. 57-58
Disponible en: http://www.hpc.org.ar/images/revista/201-v4p57.pdf
View Record in Scopus Google Scholar 10
F. Cammarata-Scalisi, R. Sánchez-Flores, F. Stock-Leyton, N. Labrador-Chacón, G. Cammarata-Scalisi: Exostosis múltiple hereditaria
Reporte de un caso y diagnóstico diferencial de las encondromatosis. Acta Ortop Mex., 26 (2012), pp. 388-392
Disponible en: http://www.medigraphic.com/pdfs/ortope/or-2012/or126i.pdf
View Record in Scopus Google Scholar 11
M. García-Lamazares, E. Someso-Orosa, A. Zamora-Casal, E. Rodríguez-MoldesOsteocondromatosis múltiple familiar: a propósito de un caso. Semergen., 39 (2013), pp. 171-174
Article Download PDF View Record in Scopus Google Scholar 12 Asociación Española de Osteocondromas Múltiples Congénitos (AEOMC). Introducción a HME/OMC. (Acceso: 07-10-15). Disponible en: http://aeomc.blogspot.mx/2007/05/introduccin-hmeomc.html. Google Scholar13
D. Resnick, M. Kyriakos, G.D. Greenway Osteochondroma
D. Resnick (Ed.), Diagnosis of Bone and Joint Disorders., W. B. Saunders, Philadelphia (1995), pp. 3725-3746
View Record in Scopus Google Scholar 14
M.T. Scarborough, G. MoreauBenign cartilage tumors
Orthop Clin North Am., 27 (1996), pp. 583-589
View Record in Scopus Google Scholar 15
M.D. Murphey, J.J. Choi, M.J. Kransdorf, D.J. Flemming, F.H. Gannon: Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation.Radiographics., 20 (2000), pp. 1407-1434
Cross Ref View Record in Scopus Google Scholar 16
W. Wuyts, J.V. Bovée, P.C. Hogendroorn[From gene to disease: hereditary multiple exostoses] Ned Tijdschr Geneeskd., 146 (2002), pp. 162-164. Disponible en: https://www.ntvg.nl/system/files/publications/2002101620001a.pdf
View Record in ScopusGoogle Scholar17
L. Xu, J. Xia, H. Jiang, J. Zhou, H. Li, D. Wang, et al.Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet., 105 (1-2) (1999), pp. 45-50. View Record in Scopus Google Scholar 18
E.R. Gomes Pestana, G.F.M. Calçada Dias, F.J. da Silva Sampaio: Exostosis múltiple hereditaria. Rev Col Med Fis Rehab., 21 (2011), pp. 113-118. View Record in Scopus Google Scholar 19
J.J. Masquijo, B. Willis: Displasia epifisaria hemimélica (enfermedad de Trevor). Arch Argent Pediatr., 108 (2010), pp. e20-e23
View Record in Scopus Google Scholar 20
M.C. Gebhardt, F.J. Hornicek: Osteosarcoma
L.R. Menendez (Ed.), Orthopaedic Knowledge Update: Musculoskeletal Tumors., American Academy of Orthopaedic Surgeons, Rosemont (2002), pp. 175-186. Google Scholar 21
H. Matsubara, H. Tsuchiya, K. Sakurakichi, T. Yamashiro, K. Watanabe, K. Tomita: Correction and lengthening for deformities of the forearm in multiple cartilaginous exostoses. J Orthop Sci., 11 (2006), pp. 459-466
Article Download PDF Cross Ref View Record in Scopus Google Scholar 22
E.K. Shin, N.F. Jones, J.F. Lawrence: Treatment of multiple hereditary osteochondromas of the forearm in children: a study of surgical procedures. J Bone Joint Surg Br., 88 (2006), pp. 255-260
View Record in Scopus Google Scholar 23
J. Ishikawa, H. Kato, F. Fujioka, N. Iwasaki, N. Suenaga, A. Minami: Tumor location affects the results of simple excision for multiple osteochondromas in the forearm. J Bone Joint Surg Am., 89 (2007), pp. 1238-1247. Disponible en: http://dx.doi.org/10.2106/JBJS.F.00298
View Record in Scopus Google Scholar 24
A.C. Watts, J.A. Ballantyne, M. Fraser, A.H. Simpson, D.E. Porter: The association between ulnar length and forearm movement in patients with multiple osteochondromas. J Hand Surg Am., 32 (2007), pp. 667-673
Disponible en: http://dx.doi.org/10.1016/j.jhsa.2007.02
Article Download PDF View Record in Scopus Google Scholar
Google Scholar 3
J. Hunter, Lectures on the Principles of Surgery, Haswell, Barrington and Haswell Publishers, Philadelphia (1839), pp. 299-302
Disponible en: https://archive.org/stream/56830620R.nlm.nih.gov/56830620R#page/n0/mode/1up
Google Scholar 4
G.A. Schmale, E.U. Conrad 3rd, W.H. Raskind The natural history of hereditary multiple exostoses. J Bone Joint Surg Am., 76 (1994), pp. 986-992
Disponible en: http://jbjs.org/content/76/7/986
Cross Ref View Record in Scopus Google Scholar 5
G. Duncan, C. McCormick, F. Tufaro, The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. J Clin Invest., 108 (2001), pp. 511-516, 10.1172/JCI13737
Disponible en: http://www.jci.org/articles/view/13737
View Record in Scopus Google Scholar 6
J.A. Morcuende, M.B. DobbsIdiopathic and heritable disorders
S.L. Weinstein, J.A. Buckwalter (Eds.), Turek's Orthopaedics: Principles and Their Application., 9780781742986, Lippincott Williams & Wilkins, Philadelphia (2005), pp. 245-266
View Record in Scopus Google Scholar 7
I. Jennes, E. Pedrini, M. Zuntini, M. Mordenti, S. Balkassmi, C.G. Asteggiano, et al.Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)
Hum Mutat., 30 (2009), pp. 1620-1627, 10.1002/humu.21123
Cross Ref View Record in Scopus Google Scholar 8
W. Heinritz, U. Hüffmeier, S. Strenge, B. Miterski, C. Zweier, S. Leinung, et al.New mutations of EXT1 and EXT2 genes in German patients with multiple osteochondromas, Ann Hum Genet., 73 (2009), pp. 283-291
Cross Ref View Record in Scopus Google Scholar 9
J.S. Binetti, R.M. Barrera, D. Labayén Osteocondromatosis múltiple hereditaria. Revista HPC., 4 (1 y 2) (2001), pp. 57-58
Disponible en: http://www.hpc.org.ar/images/revista/201-v4p57.pdf
View Record in Scopus Google Scholar 10
F. Cammarata-Scalisi, R. Sánchez-Flores, F. Stock-Leyton, N. Labrador-Chacón, G. Cammarata-Scalisi: Exostosis múltiple hereditaria
Reporte de un caso y diagnóstico diferencial de las encondromatosis. Acta Ortop Mex., 26 (2012), pp. 388-392
Disponible en: http://www.medigraphic.com/pdfs/ortope/or-2012/or126i.pdf
View Record in Scopus Google Scholar 11
M. García-Lamazares, E. Someso-Orosa, A. Zamora-Casal, E. Rodríguez-MoldesOsteocondromatosis múltiple familiar: a propósito de un caso. Semergen., 39 (2013), pp. 171-174
Article Download PDF View Record in Scopus Google Scholar 12 Asociación Española de Osteocondromas Múltiples Congénitos (AEOMC). Introducción a HME/OMC. (Acceso: 07-10-15). Disponible en: http://aeomc.blogspot.mx/2007/05/introduccin-hmeomc.html. Google Scholar13
D. Resnick, M. Kyriakos, G.D. Greenway Osteochondroma
D. Resnick (Ed.), Diagnosis of Bone and Joint Disorders., W. B. Saunders, Philadelphia (1995), pp. 3725-3746
View Record in Scopus Google Scholar 14
M.T. Scarborough, G. MoreauBenign cartilage tumors
Orthop Clin North Am., 27 (1996), pp. 583-589
View Record in Scopus Google Scholar 15
M.D. Murphey, J.J. Choi, M.J. Kransdorf, D.J. Flemming, F.H. Gannon: Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation.Radiographics., 20 (2000), pp. 1407-1434
Cross Ref View Record in Scopus Google Scholar 16
W. Wuyts, J.V. Bovée, P.C. Hogendroorn[From gene to disease: hereditary multiple exostoses] Ned Tijdschr Geneeskd., 146 (2002), pp. 162-164. Disponible en: https://www.ntvg.nl/system/files/publications/2002101620001a.pdf
View Record in ScopusGoogle Scholar17
L. Xu, J. Xia, H. Jiang, J. Zhou, H. Li, D. Wang, et al.Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet., 105 (1-2) (1999), pp. 45-50. View Record in Scopus Google Scholar 18
E.R. Gomes Pestana, G.F.M. Calçada Dias, F.J. da Silva Sampaio: Exostosis múltiple hereditaria. Rev Col Med Fis Rehab., 21 (2011), pp. 113-118. View Record in Scopus Google Scholar 19
J.J. Masquijo, B. Willis: Displasia epifisaria hemimélica (enfermedad de Trevor). Arch Argent Pediatr., 108 (2010), pp. e20-e23
View Record in Scopus Google Scholar 20
M.C. Gebhardt, F.J. Hornicek: Osteosarcoma
L.R. Menendez (Ed.), Orthopaedic Knowledge Update: Musculoskeletal Tumors., American Academy of Orthopaedic Surgeons, Rosemont (2002), pp. 175-186. Google Scholar 21
H. Matsubara, H. Tsuchiya, K. Sakurakichi, T. Yamashiro, K. Watanabe, K. Tomita: Correction and lengthening for deformities of the forearm in multiple cartilaginous exostoses. J Orthop Sci., 11 (2006), pp. 459-466
Article Download PDF Cross Ref View Record in Scopus Google Scholar 22
E.K. Shin, N.F. Jones, J.F. Lawrence: Treatment of multiple hereditary osteochondromas of the forearm in children: a study of surgical procedures. J Bone Joint Surg Br., 88 (2006), pp. 255-260
View Record in Scopus Google Scholar 23
J. Ishikawa, H. Kato, F. Fujioka, N. Iwasaki, N. Suenaga, A. Minami: Tumor location affects the results of simple excision for multiple osteochondromas in the forearm. J Bone Joint Surg Am., 89 (2007), pp. 1238-1247. Disponible en: http://dx.doi.org/10.2106/JBJS.F.00298
View Record in Scopus Google Scholar 24
A.C. Watts, J.A. Ballantyne, M. Fraser, A.H. Simpson, D.E. Porter: The association between ulnar length and forearm movement in patients with multiple osteochondromas. J Hand Surg Am., 32 (2007), pp. 667-673
Disponible en: http://dx.doi.org/10.1016/j.jhsa.2007.02
Article Download PDF View Record in Scopus Google Scholar
No hay comentarios:
Publicar un comentario