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Órgano Oficial del Colegio Mexicano de Ortopedia y Traumatología

2012, Número 6

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Acta Ortop Mex 2012; 26 (6)


Exostosis múltiple hereditaria. Reporte de un caso y diagnóstico diferencial de las encondromatosis

Cammarata-Scalisi F, Sánchez-Flores R, Stock-Leyton F, Labrador-Chacón N, Cammarata-Scalisi G

Idioma: Español
Referencias bibliográficas: 35
Paginas: 388-392
Archivo PDF: 88.61 Kb.


RESUMEN

Las encondromatosis incluyen a un heterogéneo grupo de alteraciones congénitas caracterizadas por la presencia de múltiples encondromas asociados a malformaciones musculoesqueléticas y la principal complicación es el riesgo de transformación maligna a condrosarcoma. La exostosis múltiple hereditaria es una entidad con patrón de herencia autonómica dominante, caracterizada por presentar múltiples exostosis de cartílago capsulado benigno y manifestaciones clínicas heterogéneas. Las mutaciones de los genes EXT1 y EXT2 han sido clonados y son responsables sobre 80% de los casos. Presentamos el caso clínico de paciente femenina de seis años de edad con el diagnóstico de exostosis múltiple hereditaria que fue evaluada de forma multidisciplinaria en nuestra institución, siendo el segundo caso estudiado en la Unidad de Genética Médica de la Universidad de Los Andes; los aspectos clínicos y genéticos, los posibles diagnósticos diferenciales con la enfermedad de Ollier y el síndrome de Maffucci fueron revisados.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Ezra N, Tetteh B, Diament M, Jonas AJ, Dickson P: Hereditary multiple exostoses with spine involvement in a 4-year-old boy. Am J Med Genet A 2010; 152A: 1264-7.

  2. Pei Y, Wang Y, Huang W, Hu B, Huang D, Zhou Y, Su P: Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses. Genet Test Mol Biomarkers 2010; 14: 865-72.

  3. Pierz KA, Stieber JR, Kusumi K, Dormans JP: Hereditary multiple exostoses: one center’s experience and review of etiology. Clin Orthop Relat Res 2002; 401: 49-59.

  4. Gómez-Valencia L, Morales-Hernández A, Salomón-Cruz J, Berttolini-Díaz AJ, Cornelio-García RM, Toledo-Ocampo E: Exostosis múltiple hereditaria y síndrome de Down. Bol Med Hosp Infant Mex 2005; 62: 356-61.

  5. Zhao WQ, Song SJ, Wei Q, Qiao J: A new EXT2 mutation in a Chinese family with hereditary multiple exostoses. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009; 26: 241-4.

  6. Sansón-RíoFrío JA, Santiesteban N, Bahena RI, Villavicencio VV, Martínez-Said H, Padilla RA, Cuéllar HM: Differential diagnosis of multiple hereditary exostoses: presentation of a clinical case with secondary chondrosarcoma and literature review. Acta Ortop Mex 2009; 23: 376-82.

  7. Roehl HH, Pacifici M: Shop talk: Sugars, bones and a disease called multiple hereditary exostoses. Dev Dyn 2010; 239: 1901-4.

  8. Okada M, Nadanaka S, Shoji N, Tamura J, Kitagawa H: Biosynthesis of heparan sulfate in EXT1-deficient cells. Biochem J 2010; 428: 463-71.

  9. Li Y, Wang D, Wang W, Wang J, Li H, Wang J, Wang X, Fu Q: Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. Genet Test Mol Biomarkers 2009; 13: 825-30.

  10. Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, et al: Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet 1998; 62: 346-54.

  11. Wuyts W, Van Hul W: Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat 2000; 15: 220-7.

  12. Wen W, Zhang Y, Wang Y, Cao L, Wang S, Luo Y: A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis. Genet Test Mol Biomarkers 2010; 14: 371-6.

  13. Chen WC, Chi CH, Chuang CC, Jou IM: Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses. J Formos Med Assoc 2006; 105: 434-7.

  14. Yao F, Wang Y, Liao S, Wang L, Wang T, Kang B: The EXT2 gene mutation in a family with hereditary multiple exostoses. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010; 27: 92-5.

  15. Ezra N, Tetteh B, Diament M, Jonas AJ, Dickson P: Hereditary multiple exostoses with spine involvement in a 4-year-old boy. Am J Med Genet A 2010; 152A: 1264-7.

  16. Roach JW, Klatt JW, Faulkner ND: Involvement of the spine in patients with multiple hereditary exostoses. J Bone Joint Surg Am 2009; 91: 1942-8.

  17. Patel A, Thacker MM: Cervical spinal canal compromise in a 14-year-old girl with hereditary multiple exostoses. Pediatr Radiol 2010; 40(Suppl 1): S158.

  18. Lotfinia I, Vahedi P, Tubbs RS, Ghavame M, Meshkini A: Neurological manifestations, imaging characteristics, and surgical outcome of intraspinal osteochondroma. J Neurosurg Spine 2010; 12: 474-89.

  19. Nistor C, Ciuche A, Davidescu M, Horvat T, Tudose A: A giant thoracoabdominal tumor-hereditary multiple exostoses. Chirurgia (Bucur) 2009; 104: 617-20.

  20. Toumi S, Ghnaya H, Essid A, Braham A, Jerbi S, Mrad-Daly K, Laouani-Kechrid C: Hereditary multiple exostoses revealed by deep vein and arterial popliteal thrombosis. Rev Med Interne 2010; 31: e7-10.

  21. Khan I, West CA Jr, Sangster GP, Heldmann M, Doucet L, Olmedo M: Multiple hereditary exostoses as a rare nonatherosclerotic etiology of chronic lower extremity ischemia. J Vasc Surg 2010; 51: 1003-5.

  22. El-Fiky TA, Chow W, Li YH, To M: Hereditary multiple exostoses of the hip. J Orthop Surg (Hong Kong) 2009; 17: 161-5.

  23. Pavić P, Vergles D, Sarlija M, Ajduk M, Cupurdija K: Pseudoaneurysm of the popliteal artery in a patient with multiple hereditary exostoses. Ann Vasc Surg 2011; 25: 268.e1-2.

  24. Pata G, Nascimbeni R, Di Lorenzo D, Gervasi M, Villanacci V, Salerni B: Hereditary multiple exostoses and juvenile colon carcinoma: A case with a common genetic background? J Surg Oncol 2009; 100: 520-2.

  25. Casal D, Mavioso C, Mendes MM, Mouzinho MM: Hand involvement in Ollier Disease and Maffucci Syndrome: a case series. Acta Reumatol Port 2010; 35: 375-8.

  26. Pansuriya TC, Oosting J, Krenács T, Taminiau AH, Verdegaal SH, Sangiorgi L, et al: Genome-wide analysis of Ollier disease: Is it all in the genes? Orphanet J Rare Dis 2011; 6: 2.

  27. Gupta N, Kabra M: Maffucci syndrome. Indian Pediatr 2007; 44: 149-50.

  28. Ranger A, Szymczak A, Hammond RR, Zelcer S: Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): a rare case of concurrence. J Neurosurg Pediatr 2009; 4: 363-7.

  29. Walid MS, Troup EC: Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. J Neurooncol 2008; 89: 59-62.

  30. Sendur OF, Turan Y, Odabasi BB, Berkit IK: A case of Ollier disease with non-small cell lung cancer and review of the literature. Rheumatol Int 2010; 30: 699-703.

  31. Rietveld L, Nieboer TE, Kluivers KB, Schreuder HW, Bulten J, Massuger LF: First case of juvenile granulosa cell tumor in an adult with Ollier disease. Int J Gynecol Pathol 2009; 28: 464-7.

  32. Leyva-Carmona M, Vázquez-López MA, Lendinez-Molinos F: Ovarian juvenile granulosa cell tumors in infants. J Pediatr Hematol Oncol 2009; 31: 304-6.

  33. Ruivo J, Antunes JL: Maffucci syndrome associated with a pituitary adenoma and a probable brainstem tumor. J Neurosurg 2009; 110: 363-8.

  34. Puech-Bret N, Bret J, Bennet A, Huyghe E, Mazerolles C, Zabraniecki L, Fournie B: Maffucci syndrome and adrenal cortex tumor. Joint Bone Spine 2009; 76: 56-8.

  35. Lissa FC, Argente JS, Antunes GN, Basso F de O, Furtado J: Maffucci syndrome and soft tissue sarcoma: a case report. Int Semin Surg Oncol 2009; 6: 2.




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