medigraphic.com
ISSN 1029-3035 (Electronic)

2014, Number S2

<< Back Next >>

Mediciego 2014; 20 (S2)

Enchondroma. A case presentation

Samper MH, Pérez MD, Álvarez GA, Nacaesey JR, Díaz MJV, Moreno GR

Language: Spanish
References: 11
Page:
PDF size: 43.29 Kb.


ABSTRACT

Enchondromas can be unique or multiple. The unique ones are not rare and could be considered as a discovery. They are developed inside the bone, mainly in endochondrial areas. When the enchondromas transform into multiple injury so, there is an enchondromatosis that includes several bones. Ollier’s disease is when a multiple enchondromatosis involves just the half of the body, it means in the unilateral enchondromatosis. The main complication of enchondromas is their malignant transformation to secondary chondrosarcomas, which may occur in up to 25% of cases. It was presented a clinical case of a 4-years-old patient with unique enchondromatosis diagnosis who was submitted to the pediatric onchology consultation due to a 2nd grade malformation on the right hand.


REFERENCES

  1. Pappo AS. Tumores benignos. En: Nelson WE, editor. Tratado de Pediatría. 15 ed. La Habana: Ciencias Médicas; 1981. p. 1841-1843.

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

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

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

  5. Sansón Río Frío JA, Santiesteban N, Bahena R, Villavicencio V, Martínez Said H, Padilla R, et al. Differential diagnosis of multiple hereditary exostoses: presentation of a clinical case with secondary chondrosarcoma & literature review. Acta Ortop Mex. 2009; 23: 376-82.

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

  7. Okada M, Nadanaka S, Shoji N, Tamura J, Kitagawa H. Biosynthesis of heparin sulfate in XT1-deficient cells. Biochem J. 2010; 428: 463-71.

  8. Li Y, Wang D, Wang W, Wang J, Li H, Wang J, et al. Identification of 4 novel EXT1 & EXT2 mutations in 5 Chinese pedigrees with hereditary multiple exostoses. Genet Test Mol Biomarkers. 2009; 13: 825-30.

  9. 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.

  10. Álvarez López A, García Lorenzo Y, Casanova Morote C, Muñoz Infante A. Condrosarcoma. Rev Cubana Ortop Traumatol [Internet]. 2007 [citado 21 Jul 2014]; 21(2):[aprox. 8 p.]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864- 215X2007000200007&lng=es

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




2020     |     www.medigraphic.com