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LETTER TO EDITOR
Year : 2017  |  Volume : 3  |  Issue : 1  |  Page : 66

Osteochondroma of the scaphoid in a 5-year-old child: A rare case report


Department of Paediatrics, Al-Kindy College of Medicine, Baghdad University, Baghdad, Iraq

Date of Web Publication12-Jul-2017

Correspondence Address:
Mahmood Dhahir Al-Mendalawi
P.O. Box: 55302, Baghdad Post Office, Baghdad
Iraq
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcrsm.jcrsm_1_17

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How to cite this article:
Al-Mendalawi MD. Osteochondroma of the scaphoid in a 5-year-old child: A rare case report. J Curr Res Sci Med 2017;3:66

How to cite this URL:
Al-Mendalawi MD. Osteochondroma of the scaphoid in a 5-year-old child: A rare case report. J Curr Res Sci Med [serial online] 2017 [cited 2020 Nov 24];3:66. Available from: https://www.jcrsmed.org/text.asp?2017/3/1/66/210332

Dear Sir,

I read with interest the case report by Suranigi et al. on the osteochondroma of the scaphoid in a 5-year-old Indian child.[1] It is obvious that osteochondroma can be an isolated lesion or be a part of hereditary multiple exostoses (HME). The clinical presentation varies from asymptomatic to a wide spectrum. I presume that HME needs to be considered in the case in question. My assumption is based on the following two points.

First, HME is an autosomal dominant bone disease. Consanguineous unions have been significantly associated with increased susceptibility to the various forms of inherited diseases.[2] To my knowledge, the prevalence of consanguineous marriages in India is relatively substantial (12.3%).[3] This factor together with high birth rate could contribute to the prevailing of various inherited diseases in India.

Second, HME is mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate synthesis necessary for cartilage structure, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved.[4] I presume that mutation study ought to be accomplished in the case in question. Regrettably, that study was not considered by the authors. I presume that if that study was done, it might support the diagnosis of HME, expand the mutation spectrum of EXT1 and EXT2, and further highlight phenotypic and genetic heterogeneity of HME already reported in India.[5]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Suranigi SM, Babu AT, Rengasamy K, Palanisamy M, Kurian SS, Najimudeen S. Osteochondroma of the scaphoid in a 5-year-old child: A rare case report. J Curr Res Sci Med 2016;2:120-4.  Back to cited text no. 1
  [Full text]  
2.
Fareed M, Afzal M. Genetics of consanguinity and inbreeding in health and disease. Ann Hum Biol 2017;44:99-107.  Back to cited text no. 2
    
3.
Joseph N, Pavan KK, Ganapathi K, Apoorva P, Sharma P, Jhamb JA. Health awareness and consequences of consanguineous marriages: A community-based study. J Prim Care Community Health 2015;6:121-7.  Back to cited text no. 3
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4.
Beltrami G, Ristori G, Scoccianti G, Tamburini A, Capanna R. Hereditary multiple exostoses: A review of clinical appearance and metabolic pattern. Clin Cases Miner Bone Metab 2016;13:110-8.  Back to cited text no. 4
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5.
Vanita V, Sperling K, Sandhu HS, Sandhu PS, Singh JR. Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. Genet Test Mol Biomarkers 2009;13:43-9.  Back to cited text no. 5
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