The relation of Hereditery Multiple Exostoses and trace elements

Abstract

Introduction: Hereditery multiple exostoses (HME) is a rarely autosomal dominant bone tumoral disorder; which is characterized by abnormal ossification especially at long bones. The common symptoms are bone pain, joint movement limitation, malign degeneration, vessel and neuron impression and asymmetry of extremities. 

Material and Methods: A 26-year-old male patient (weight 60 kg, height 170 cm) who admitted  to Department of Orthopedics Out-patient Clinic at Cerrahpasa Medical Faculty in July 2013 had been suffering from bone pain and prominences in different parts of his body for 20 years. Other individuals diagnosed with HME were reported in his family history.  The association of a group of trace elements of the patient was analysed at the Department of Biophysics.

Conclusion: Until this time there have been no investigation about the association of HME and trace elements. The level of trace elements that play crucial roles in all systems especially bone and renal metabolism should be kept in mind in evaluation of HME patients. For this purpose, familial and environmental trace element level determination would be one of our projects in this study.

Key words: Hereditary Multiple Exostoses, osteochondroma, trace element.

 

Keywords

• Hereditary Multiple Exostoses, Osteochondroma, Trace element

The relation of Hereditery Multiple Exostoses and trace elements

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Kaynakça

1. 1. Vanhoenacker FM, Van Hul W, Wuyts W, Willems PJ, De Schepper AM. Hereditary multiple exostoses: from genetics to clinical syndrome and complications. European journal of radiology. 2001;40(3):208-17.
2. 2. Fisher TJ, Williams N, Morris L, Cundy PJ. Metachondromatosis: more than just multiple osteochondromas. Journal of children's orthopaedics. 2013;7(6):455-64.
3. 3. Porter DE, Emerton ME, Villanueva-Lopez F, Simpson AH. Clinical and radiographic analysis of osteochondromas and growth disturbance in hereditary multiple exostoses. Journal of pediatric orthopedics. 2000;20(2):246-50.
4. 4. Anantharamaiah H, Kalyani R, Kumar MLH, P VM. Secondary Chondrosarcoma of the Lumbosacral Region: Are any Bones Spared in the Multiple Hereditary Exostoses? Journal of clinical and diagnostic research : JCDR. 2012;6(10):1778-80.
5. 5. Bovee JV. Multiple osteochondromas. Orphanet journal of rare diseases. 2008;3:3.
6. 6. Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH. Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. Radiographics : a review publication of the Radiological Society of North America, Inc. 2000;20(5):1407-34.
7. 7. Silve C, Juppner H. Ollier disease. Orphanet journal of rare diseases. 2006;1:37.
8. 8. Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, et al. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Human mutation. 2009;30(12):1620-7.

9. 9. R K, K P, B G, Naseer BS, Ds K. Multiple heriditary exostoses in a family for three generation of Indian origin with review of literature. Journal of clinical and diagnostic research : JCDR. 2014;8(10):LD01-3.
10. 10. Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, et al. A gene for hereditary multiple exostoses maps to chromosome 19p. Human molecular genetics. 1994;3(5):717-22.
11. 11. Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, et al. Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. American journal of medical genetics. 2001;99(1):59-62.
12. 12. Pannier S, Legeai-Mallet L. Hereditary multiple exostoses and enchondromatosis. Best practice & research Clinical rheumatology. 2008;22(1):45-54. 13. Carroll KL, Yandow SM, Ward K, Carey JC. Clinical correlation to genetic variations of hereditary multiple exostosis. Journal of pediatric orthopedics. 1999;19(6):785-91.
13. 14. 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 = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2009;26(3):241-4.
14. 15. Tonelli M, Wiebe N, Hemmelgarn B, Klarenbach S, Field C, Manns B, et al. Trace elements in hemodialysis patients: a systematic review and meta-analysis. BMC medicine. 2009;7:25.
15. 16. Shrimpton R, Gross R, Darnton-Hill I, Young M. Zinc deficiency: what are the most appropriate interventions? Bmj. 2005;330(7487):347-9..
16. 17. Pasko DA, Churchwell MD, Btaiche IF, Jain JC, Mueller BA, Renal Replacement Therapy Kinetics Study G. Continuous venovenous hemodiafiltration trace element clearance in pediatric patients: a case series. Pediatric nephrology. 2009;24(4):807-13.
17. 18. Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, et al. Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. American journal of medical genetics. 2001;99(1):59-62.
18. 19. Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, et al. A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes, chromosomes & cancer. 2007;46(5):470-7.
19. 20. Mehta M, White LM, Knapp T, Kandel RA, Wunder JS, Bell RS. MR imaging of symptomatic osteochondromas with pathological correlation. Skeletal radiology. 1998;27(8):427-33.
20. 21. Eschelman DJ, Gardiner GA, Jr., Deely DM. Osteochondroma: an unusual cause of vascular disease in young adults. Journal of vascular and interventional radiology : JVIR. 1995;6(4):605-13.