Sospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: reporte de un caso y revisión de literatura

• Autores: Carolina Cevallos B., Emilio Vargas, Sergio González B., Monserrat Molgó Novell
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 146, Nº. 8, 2018, págs. 938-942
• Idioma: español
• Títulos paralelos:
  • Suspected vascular ehlers danlos syndrome. Case report
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• Resumen

  • Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.