[Suspected vascular ehlers danlos syndrome. Case report]

Rev Med Chil. 2018 Aug;146(8):938-942. doi: 10.4067/s0034-98872018000800938.
[Article in Spanish]

Abstract

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.

MeSH terms

  • Adult
  • Connective Tissue Diseases / diagnostic imaging
  • Connective Tissue Diseases / genetics
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / genetics
  • Genetic Heterogeneity
  • Humans
  • Male
  • Molecular Diagnostic Techniques
  • Young Adult