Ehlers-Danlos syndrome type IV in a young man

J Rheumatol. 2006 Oct;33(10):2091-6.

Abstract

We describe a 19-year-old male, with a family history of both systemic lupus erythematosus and Marfan syndrome, who had a history of bruising easily and skin lesions since childhood. He had a spontaneous colonic perforation at the age of 16 years, followed 3 years later by sudden development of bilateral renal infarctions and hypertension, which on angiography were found to be due to dissection of both renal arteries. Transient elevations of 3 types of antiphospholipid antibodies (aPL) were detected. Skin biopsy showed typical elastosis perforans serpiginosa. The history together with the generalized connective tissue phenotype, histology, and angiographic features combined to establish a diagnosis of vascular Ehlers-Danlos syndrome, type IV; the body habitus resembled the phenotypically-related condition of Marfan syndrome. The coincidental finding of transient aPL elevations combined to make this a difficult diagnostic and clinical management problem.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Angiography
  • Antibodies, Antiphospholipid / metabolism
  • C-Reactive Protein / metabolism
  • Diagnosis, Differential
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / metabolism
  • Ehlers-Danlos Syndrome / pathology*
  • Humans
  • Kidney / blood supply
  • Male
  • Marfan Syndrome / diagnosis
  • Skin / pathology
  • von Willebrand Factor / immunology
  • von Willebrand Factor / metabolism

Substances

  • Antibodies, Antiphospholipid
  • von Willebrand Factor
  • C-Reactive Protein