Multiple hereditary exostoses
Keywords:
rehabilitation, multiple hereditary exostoses, chondrosarcoma.Abstract
Multiple Hereditary Exostoses (HME) is an autossomal dominant disorder that exhibits multiple benign osteocartilaginous bone tumours that arise near the ends of long bones during childhood. The most common complaint is pain and the exostoses may degenerate into chondrosarcomas.We report a female patient who underwent a rehabilitation program to ease her complaints caused by a large exostosis in the left femur and displayed an exostose of the nasal septa, feature never described before in HME. Molecular study confirmed a novel mutation on the EXT 1 gene. The mutation of a cytosine for a guanine nucleotide in the position 830 on the exon 1 of the EXT 1 gene (c.830C > G) caused the replacement of the serine aminoacid for a stop codon in the position 277 of the protein.
References
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2. Jaffe HL; Tumors and tumorous conditions of the bones and joints. Philadelphia: Lea and Febiger, 1968.
3. Bovée J; Multiple osteochondromas. Orphanet Journal of Rare Diseases 2008;3:1-7.
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7. Sofka C, Saboeiro G, Schneider R; Multiple hereditary exostoses. Hospital for Special Surgery 2005;1:49-51.
8. Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH; Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. Radiographics 2000;20 (5):1407-1434.
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2. Jaffe HL; Tumors and tumorous conditions of the bones and joints. Philadelphia: Lea and Febiger, 1968.
3. Bovée J; Multiple osteochondromas. Orphanet Journal of Rare Diseases 2008;3:1-7.
4. Carpintero P, Leon F, Zafra M, Montero M, Berral FJ; Fractures of osteochondroma during physical exercise. Am J Sports Med 2003; 31:1003-1006.
5. Wicklund LC, Pauli RM, Johnston D, Hecht JT: Natural history study of hereditary multiple exostoses. Am J Med Genet 1995; 55:43-46.
6. Hennekam RC: Hereditary multiple exostoses. Am J Med Genet 1991;28:262-266.
7. Sofka C, Saboeiro G, Schneider R; Multiple hereditary exostoses. Hospital for Special Surgery 2005;1:49-51.
8. Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH; Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. Radiographics 2000;20 (5):1407-1434.
9. Francannet C et al.; Genotype-phenotype correlation in hereditary multiple exostoses. Journal Medical Genetics 2001;38:430-434.
10. Silve C, Juppner H; Ollier disease. Orphanet Journal of Rare Diseases 2006;1:1-6.
11. Cohen J, Park A; Multiple Congenital Abnormalities: the association of seven defects including multiple exostoses, von Willebrand’s disease and bilateral winged scapula. Arch Intern Med 1972;129:972-974.
How to Cite
1.
Gomes Pestana Énio R, Calçada Dias FM, da Silva Sampaio FJ. Multiple hereditary exostoses. Rev. Colomb. Med. Fis. Rehabil. [Internet]. 2012 Apr. 14 [cited 2024 May 17];21(2):113-8. Available from: https://revistacmfr.org/index.php/rcmfr/article/view/14
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