Hereditary multiple exostoses - a rare case
Keywords:
Hereditary, Multiple, Exostoses, Autosomal Dominant, Deformity
Abstract
Hereditary Multiple Exostoses (HME) is a genetically transmitted bone dysplasia that is inherited in an autosomal dominant manner. It usually presents after the age of two years as multiple bony growths on the appendicular skeleton. It is a rare condition with incidence of 0.9-2/1,00,00 with few reported cases. We are hereby reporting an 8 year old boy with typical clinical and radiological features of Hereditary Multiple Exostoses (HME) in our hospital.
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References
1. John Ebnezar .Textbook of Orthopedics. 4th ed. Jaypee Brothers Medical Publishers Ltd; 2013: 87-88.
2. Dahlin DC, Unni KK.Bone Tumors: General aspects and data on 11, 087 cases. 5th Ed. Philadelphia: Lippincott-Raven; 1996. P. 11-23.
3. Schmale GA, Conrad EU 3rd, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 1994 Jul;76(7):986-92. [PubMed]
4. Pannier S, Legeai-Mallet L. Hereditary multiple exostoses and enchondromatosis. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):45-54. doi: 10.1016/j.berh.2007.12.004. [PubMed]
5. Hennekam RC. Hereditary multiple exostoses. J Med Genet. 1991 Apr;28(4):262-6. [PubMed]
6. Turek's orthopaedics principles and their application.6th ed. Philadelphia: Lippincott Williams & Wilkins. 2005. p. 263.
7. Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet. 1997 Jul;52(1):12-6. [PubMed]
8. Bovée G, Hogendoorn PW. Multiple osteochondromas. World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone. Edited by: Fletcher CDM, Unni KK and Mertens F. IARC Press.Lyon 2002;360-62.
9. Wicklund CL, Pauli RM, Johnston D, Hecht JT. Natural history study of hereditary multiple exostoses. Am J Med Genet. 1995 Jan 2;55(1):43-6. [PubMed]
10. Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G, et al. Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet. 1993 Jul;53(1):71-9. [PubMed]
11. Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P. A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet. 1994 May;3(5):717-22. [PubMed]
12. Paik NJ, Han TR, Lim SJ. Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses. Muscle Nerve. 2000 Aug;23(8):1290-4.
13. Kivioja A, Ervasti H, Kinnunen J, Kaitila I, Wolf M, Böhling T. Chondrosarcoma in a family with multiple hereditary exostoses. J Bone Joint Surg Br. 2000 Mar;82(2):261-6. [PubMed]
14. Yinusa W, Owoola AM, Esin IA. Hereditary multiple exostoses: case report. Niger J Clin Pract. 2010 Jun;13(2):218-22. [PubMed]
2. Dahlin DC, Unni KK.Bone Tumors: General aspects and data on 11, 087 cases. 5th Ed. Philadelphia: Lippincott-Raven; 1996. P. 11-23.
3. Schmale GA, Conrad EU 3rd, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 1994 Jul;76(7):986-92. [PubMed]
4. Pannier S, Legeai-Mallet L. Hereditary multiple exostoses and enchondromatosis. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):45-54. doi: 10.1016/j.berh.2007.12.004. [PubMed]
5. Hennekam RC. Hereditary multiple exostoses. J Med Genet. 1991 Apr;28(4):262-6. [PubMed]
6. Turek's orthopaedics principles and their application.6th ed. Philadelphia: Lippincott Williams & Wilkins. 2005. p. 263.
7. Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet. 1997 Jul;52(1):12-6. [PubMed]
8. Bovée G, Hogendoorn PW. Multiple osteochondromas. World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone. Edited by: Fletcher CDM, Unni KK and Mertens F. IARC Press.Lyon 2002;360-62.
9. Wicklund CL, Pauli RM, Johnston D, Hecht JT. Natural history study of hereditary multiple exostoses. Am J Med Genet. 1995 Jan 2;55(1):43-6. [PubMed]
10. Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G, et al. Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet. 1993 Jul;53(1):71-9. [PubMed]
11. Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P. A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet. 1994 May;3(5):717-22. [PubMed]
12. Paik NJ, Han TR, Lim SJ. Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses. Muscle Nerve. 2000 Aug;23(8):1290-4.
13. Kivioja A, Ervasti H, Kinnunen J, Kaitila I, Wolf M, Böhling T. Chondrosarcoma in a family with multiple hereditary exostoses. J Bone Joint Surg Br. 2000 Mar;82(2):261-6. [PubMed]
14. Yinusa W, Owoola AM, Esin IA. Hereditary multiple exostoses: case report. Niger J Clin Pract. 2010 Jun;13(2):218-22. [PubMed]
CITATION
DOI: 10.17511/ijpr.2017.i02.17
Published: 2017-02-28
How to Cite
Dr. Shivaprakash. N.C, Dr Naveen K S, & Dr. Sowmya.S. (2017). Hereditary multiple exostoses - a rare case. Pediatric Review: International Journal of Pediatric Research, 4(2), 185-187. https://doi.org/10.17511/ijpr.2017.i02.17
Section
Case Report
Copyright (c) 2017 Author (s). Published by Siddharth Health Research and Social Welfare Society
This work is licensed under a Creative Commons Attribution 4.0 International License.
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