[Pseudoxanthoma elasticum-like syndrome associated with hemoglobinopathy: a case report]

Rev Med Interne. 2008 Apr;29(4):315-8. doi: 10.1016/j.revmed.2007.10.006. Epub 2007 Oct 30.
[Article in French]

Abstract

Introduction: We report a case of hemoglobinopathy which could be associated with a pseudoxanthoma elastic-like syndrome.

Exegesis: We report the case of a 26-year-old male patient with sickle cell anemia for which the supra-aortic-doppler ultrasonography suggested an asymptomatic left carotid artery of 70% stenosis. The magnetic resonance imaging and angiography showed a left megadolichocarotid with plicature suggestive of pseudoxanthoma elastic or a dilatation relative to a high rate of blood explaining the acceleration speed. There was a cutaneous infiltration but other vasculopathies of neither carotide, nor cerebral, nor ocular have been discovered while they were sometimes found in pseudoxanthoma elastic-like syndrome. This acquired form is different of rare hereditary disease by a later diagnosis, a clinical expression often very incomplete and a frequent association with hemoglobinopathies.

Conclusion: This observation shows that RMA could be necessary to perform in adults, when cervical and transcranial Doppler ultrasonography is abnormal, particularly before deciding to start long term blood transfusions. The hemoglobinopathy and pseudoxanthoma elastic-like syndrome must not be ignored because the control of cardiovascular factors reduce the risks of arterial complications.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Sickle Cell / complications*
  • Carotid Arteries / abnormalities
  • Carotid Arteries / pathology
  • Carotid Stenosis / diagnostic imaging
  • Humans
  • Male
  • Pseudoxanthoma Elasticum / complications*
  • Pseudoxanthoma Elasticum / diagnosis
  • Ultrasonography