Tarajano MJM, Rangel LE

Language: Spanish
References: 13
Page:
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ABSTRACT

Multiple hereditary exostosis is an autosomal dominant disorder, usually found in the first two decades of life. It is characterized by the altered metaphyseal remodeling and asymmetric bone growth with a secondary shortening of extremities bones. These bone exostoses surrounded by cartilages become prominent to the soft parts, and are different from the Ollier disease because this last one is not hereditary. The authors present the case of a woman, aged 36 years, presenting a shortening of the members, especially ulna and radius, metacarpus and metatarsus. Her 18-years-old son was also affected by this disease, having an associated Madelug deformity (shortening of ulna and radius, and radius bowing).

REFERENCES

1. IVAMI. Pruebas genéticas. Exostosis Múltiple hereditaria tipos 1 y 2[Internet]. Valencia: Instituto Valenciano de Microbiología; 2014[citado 12/05/2019]. Disponible en: Disponible en: htpps: //www.ivami.com/es/pruebas genéticas-mutaciones-de-genes

2. Ryckx A, Somers JF, Allaert L. Hereditary Multiple Osteochondromas. Acta Orthop Belg. 2013 ;79(6):597-607. Citado en PubMed; PMID: 24563962.

3. Jamsheer A, Socha M, Sowinska-Seidler A, et al. Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J Appl Genet. 2014 ;55(2):183-8. Citado en PubMed; PMID: 24532482

4. Caino S, Del-Pino M, Fano V. Exostosis múltiple. revisión clínica y radiológica de 45 pacientes en seguimiento en las clínicas de displasias esqueléticas del Hospital Garrahan. Med infant[Internet] 2013 [citado 12/05/2019];20(2): 96-102 . Disponible en:Disponible en: https://pesquisa.bvsalud.org/portal/resource/pt/lil-774387?lang=es

5. Coley BD. Caffey’s pediatric diagnostic imaging. Section 8, Part 6 • Tumors and tumor like conditions. Chapter 139 Soft Tissue and Bone Tumors[Internet]. EE UU:Elsevier Saunders. 2013[citado 12/05/2019]. p.1462-4. Disponible en: Disponible en: https://www.elsevier.com/books/caffeys-pediatric-diagnostic-imaging-2-volume-set/coley/978-0-323-49748-0

6. Gómez Valencia L, Morales Hernádez A, Salomón Cruz J, et al. Exostosis múltiple hereditaria y síndrome de Down. Bol Med Hosp Infant Mex[Internet]. 2005[citado 12/05/2019]; 62(5):356.Disponible en: Disponible en: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S1665-11462005000500010

7. Gözdaşoğlu S, Uysal Z, Kurekci M, et al. Hereditary múltiple exostoses and acute myeloid leukemia: an unusual association. Pediatric Hematology and Oncology[internet]. 2017 [citado 12/05/2019];17(8):707-11. Disponible en: Disponible en: https://www.tandfonline.com/doi/abs/10.1080/08880010050211439

8. Olmez N, Gunaydin R, Gurgan A, et al. Coexistence of hereditary multiple exostoses and ankylosing spondylitis. Clin Rheumatol. 1999; 18:481-4. Citado en PubMed; PMID: 10638774.

9. Gomes Pestana RE, Calcada Dias FM, Da-Silva Sampaio FJ. Exostosis múltiple hereditaria. Revista Col Med Fis Rehab [Internet]. 2011 [citado 12/06/2014];21(2): [aprox. 5 p.]. Disponible en:Disponible en: http://www.revistacmfr.org/index.php/rcmfr/article/view/14

10. Greenspan A, Beltran J. Beningn tumors and tumor like lesions .Lesion of cartilaginous origin. Orthopedics Imaging a practical approach[Internet]. Sixt edition.Edition Walters Klimer; 2014 [citado 12/06/2014]. Disponible en: Disponible en: https://pdfs.semanticscholar.org › .

11. Rodríguez Rodríguez EI, Taura Suárez L, Fernández García G Osteocondroma del segundo metatarsiano: presentación de un caso. AMC[Internet]. 2018 [citado 12/06/2014];22(5)742-51. Disponible en: Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1025-02552018000500742&lng=pt&nrm=iso

12. Rodríguez Rodríguez EI, Gafas González C, Martinez Morell A, et al. Exostosis múltiple hereditaria: reporte de una familia. AMC [Internet]. 2015[citado 12/06/2019];19(2): 154-9. Disponible en: Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1025-02552015000200009&lng=pt&nrm=iso&tlng=es

13. Vanhoenacker FM, Van-Hul W, Wuyts W, et al. Hereditary multiple exostoses: from genetics to clinical syndrome and complications. Eur J Radiol. 2001; 40(3):208-17. Citado en PubMed; PMID: 11731209.