medigraphic.com
SPANISH

Revista Cubana de Reumatología

ISSN 1817-5996 (Electronic)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2015, Number 1

<< Back Next >>

Rev Cub de Reu 2015; 17 (1)

Progressive diaphyseal dysplasia or Camurati-Engelmann disease: diagnostic of the case

Menéndez AFM, Mederos OA, Menéndez AT, Menéndez MFF
Full text How to cite this article

Language: Spanish
References: 21
Page: 85-91
PDF size: 704.75 Kb.


Key words:

progressive diaphyseal dysplasia, Camurati-Engelmann disease, hyperostosis.

ABSTRACT

The patient that present is the second case of progressive diaphyseal dysplasia or Camurati-Engelmann disease, reported in our country. The diagnostic suspected by the typical symptoms of the illness and established by the radiographic picture that presented. The clinical survey realized to the familiar, resulted of scarce help in the research of the type of inheritance, by what was cataloged like a new mutation. In the presentation detail the clinical demonstrations, the radiographic elements and the differential analysis that helped in the establishment of definite diagnostic.


REFERENCES

  1. Janssens K, Vanhoenacker F, Bonduelle M, Verbrugge L, Van maldergun L, Ralston SN, et al. Camurati-Engelmann disease: review of The clinical, radiological and molecular data of 24 families and implications for diagnosis and treatment. J med genet. 2006;43(1):1-11.

  2. Carlson ML, Beatty CW, Nef BA, Link MJ, Driscoll CL, Skull base manifestations of Camurati-Engelman disease.Arch otolaringol Head Neck surg. 2010;136(6):566-75.

  3. Garcia Armario MD, Vargas Lebron C. Síndrome de Camurati-Engelmann. Semin Fund Esp Reumatol. [Internet]. 2011 [citado 25 julio 2014];12(3):91–97. Disponible en: http://dx.doi.org/10.1016/j.semreu.2011.06.002

  4. Martinez de Santelices A, Leon Lopez R, Rodriguez Cedron T. Sindrome Camurati-Engelman. Presentación de un caso. Rev cubana Med Gen Integr. [Internet]. 1995[citado 25 julio 2014];11(4);363-66. Disponible en: http://scielo.sld.cu/scielo.php?pid=S0864-21251995000400008&script=sci_arttext

  5. Park SJ, Yoon CS, Park HW, Choi JR, Chung JS, Lee KA ; The first Korean case of Camurati Engelmann disease(Progressive diaphyseal dysplasia) confirmed by TGFB1 Gene mutation analysis. J Korean med Sci. 2009;24(4):737-40.

  6. Chang WW, Su H, He L, Zhao KF, Wu JL, Xu ZW. Association between transforming growth factor-β1 T869C polymorphism and rheumatoid arthritis: a meta-analysis. Rheumatology [Internet]. 2010 [citado 6 agosto 2014];49(4):652-6. Disponible en: http://rheumatology.oxfordjournals.org/content/49/4/652.full.pdf+html

  7. Vega Caicedo RA, Muñoz de la Calle JF, Amador JA, Lazala Vargas O. Enfermedad de Camurati-Engelmann: reporte de caso. Revista Colombiana de Ortopedia y Traumatología. 2013 [citado 25 julio 2014];27(2):131-6. Disponible en: http://zl.elsevier.es/es/revista/revista-colombiana-ortopedia-traumatologia-380/pdf/90219877/S300/

  8. Whyte MP, Totty WG, Novack DV, Zhang X, Wenkert D, Mumm S. Camurati-Engelmann Disease: Unique vriant featuring a novel mutation in TGF (1 encoding transforming growth factor Beta 1 and a missense change inTNFSF11 encoding RANK ligand. J Bone Miner Res. [Internet]. 2011[citado 6 agosto 2014];26(5):920-33. Disponible en: http://onlinelibrary.wiley.com/doi/10.1002/jbmr.283/pdf

  9. Warman ML, Cormier‐Daire V, Hall C, Krakow D, Lachman R, Le Merrer M, Superti‐Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. American journal of medical genetics [Internet]. 2011 [citado 6 agosto 2014];155(5):943-68. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/mid/HHMIMS305292/pdf/nihms305292.pdf

  10. Bogas M, Bogas V, Pinto F. Camurati-Engelmann disease: Typical manifestations of a rare disease. Rev Bras Reumatol [Internet]. 2009 [citado 25 julio 2014];49(3): 308-14. Disponible en: http://www.scielo.br/pdf/rbr/v49n3/en_12.pdf

  11. Morales Piga A, Alonso Ferreira V, Villaverde-Hueso A. Implicaciones del nuevo enfoque etiopatogénico en la clasificación de las enfermedades constitucionales y genéticas del hueso. Reumatol Clin [Internet]. 2011 [citado 18 agosto 2014];07(4):248-54. Disponible en: http://www.reumatologiaclinica.org/es/pdf/90021388/S300/

  12. Kang S, Han I, Shin SH, Kim HS. Orthopaedic Case of the Month: lower leg pain in a 41-year-old woman. Clin Orthop Relat Res [Internet]. 2012 [citado 25 julio 2014];470(1):321-26. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237990/pdf/11999_2011_Article_2165.pdf

  13. Babb A, Carlson W : Orthopaedic. Radiology. Pathology conference: Bilateral leg pain in a 4 years old girl. Clin Orthop Relat Res. 2009;467(1):317-20.

  14. Noain-Sanz E, Martínez de Morentin-Garraza J, Eslava-Gurrea, E. Fresado endomedular en la enfermedad de Ribbing. Revista Española de Cirugía Ortopédica y Traumatología. 2013;57(3):231-4.

  15. Juanós Iborra M, Selva-O’Callaghan A, Solanich Moreno J, Vidaller-Palacin A, Martí S, Grau Junyent JM, Vilardell Tarrés M. Enfermedad de Erdheim-Chester: estudio de 12 casos. Medicina Clínica. 2012;139(9):398-403.

  16. Vega J, Cisternas M, Bergoeing M, Espinosa R, Zapico A, Chadid P, Santamarina M. Enfermedad de Erdheim-Chester. Una causa rara de derrame pericárdico: Caso clínico. Revista médica de Chile [Internet]. 2011 [citado 18 agosto 2014];139(8):1054-9.Disponible en: http://www.scielo.cl/pdf/rmc/v139n8/art11.pdf

  17. Shoja M, Mortazavi MM, Ditty B, Griessenauer CJ, Loukas M, Harris A, Tubbs RS. Lenz-Majewski Syndrome Associated with Hydrocephalus and Multiple Congenital Malformations. Biomedicine International [Internet]. 2013 [citado 25 julio 2014];4(1). Disponible en: http://www.bmijournal.org/index.php/bmi/article/viewFile/114/110

  18. Moussaid Y, Griffiths D, Richard B, Dieux A, Lemerrer M, Léger J, Bailleul-Forestier I. Oral manifestations of patients with Kenny–Caffey Syndrome. European journal of medical genetics. 2012;55(8):441-5.

  19. Lora-Fernández AC, Montes-Cabarcas G. Luxofractura de Lisfranc, presentación de caso. Revista Ciencias Biomedicas. 2011;1(2):266-70.

  20. García IH, Teijido MB, Orta MR, Pérez SL, García AG. Caso atípico de osteoporosis idiopática juvenil. Revista Cubana de Pediatría [Internet]. 2014 [citado 25 julio 2014];86(1):1. Disponible en: http://www.bvs.sld.cu/revistas/ped/vol86_1_14/ped14114.htm

  21. Van Lierop AH, Hamdy NA, Van Egmond ME, Bakker E, Dikkers FG, Papapoulos SE. Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers. Journal of Bone and Mineral Research [Internet]. 2013 [citado 25 julio 2014];28(4):848-54. Disponible en: http://onlinelibrary.wiley.com/doi/10.1002/jbmr.1794/pdf




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Rev Cub de Reu. 2015;17