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Síndrome de Ehlers-Danlos - Overview

Definición:

Es un grupo de trastornos hereditarios caracterizado por articulaciones extremadamente sueltas o laxas, piel hiperelástica que presenta equimosis con gran facilidad y vasos sanguíneos que se dañan fácilmente.

Causas, incidencia y factores de riesgo:

Existen seis grandes tipos del síndrome de Ehlers-Danlos (SED).

Una variedad de mutaciones (cambios) genéticas causa problemas con el colágeno, el material que brinda estructura y fortaleza a la piel y el hueso, los vasos sanguíneos y los órganos internos.

El colágeno anormal lleva a síntomas asociados con el síndrome de Ehlers-Danlos. En algunas formas de la enfermedad, esto puede incluir ruptura de órganos internos o válvulas cardíacas anormales.

Los antecedentes familiares son un factor de riesgo en algunos casos.

  • Reviewed last on: 11/7/2010
  • David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 281.

Krakow D. Heritable diseases of connective tissue. In: Firestein GS, Budd RC, Harris ED Jr, et al, eds. Kelley's Textbook of Rheumatology. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 96.

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