Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update

Dermatol Online J. 2009 Jul 15;15(7):7.

Abstract

Pseudoxanthoma Elasticum (PXE) is an autosomal recessive, multisystem disorder affecting connective tissues. We describe three cases of the acquired PXE-like syndrome that often occurs in association with hemolytic anemias, in particular the hemoglobinopathies, and review the literature on the subject. The pathogenesis of the acquired PXE-like lesions is not yet completely understood. None of the mutations observed in the inherited form has been detected in the syndrome accompanying thalassemia. The cardiovascular complications could be life-threatening. Therefore, an close surveillance of these patients is mandatory.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Anemia, Sickle Cell / complications*
  • Anemia, Sickle Cell / therapy
  • Arterial Occlusive Diseases / etiology
  • Arterial Occlusive Diseases / pathology
  • Blood Vessels / pathology
  • Calcinosis / etiology
  • Calcinosis / metabolism
  • Dermis / pathology
  • Elastic Tissue / ultrastructure
  • Female
  • Humans
  • Iron Overload / etiology
  • Male
  • Middle Aged
  • Pseudoxanthoma Elasticum / etiology*
  • Pseudoxanthoma Elasticum / metabolism
  • Pseudoxanthoma Elasticum / pathology
  • Retina / pathology
  • Retinal Diseases / etiology
  • Retinal Diseases / pathology
  • Syndrome
  • Thalassemia / complications*
  • Thalassemia / therapy
  • Transfusion Reaction