Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting

Am J Med Genet A. 2011 Jul;155A(7):1517-26. doi: 10.1002/ajmg.a.34067. Epub 2011 Jun 10.


Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement, and cardiovascular problems. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a putative transmembrane efflux transporter expressed primarily in the liver. While considerable progress has recently been made in understanding the molecular genetics and pathomechanisms of PXE, no effective or specific treatment is currently available for this disorder. PXE International, the premiere patient advocacy organization, organized a workshop in November 2010 to assess the current state of diagnostics and research to develop an agenda towards treatment of PXE. This overview summarizes the progress in PXE research, with emphasis on molecular therapies for this, currently intractable, disorder.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Genetic Heterogeneity
  • Humans
  • Molecular Targeted Therapy
  • Multidrug Resistance-Associated Proteins / genetics
  • Mutation / genetics
  • Pseudoxanthoma Elasticum / diagnosis*
  • Pseudoxanthoma Elasticum / genetics*
  • Pseudoxanthoma Elasticum / physiopathology
  • Pseudoxanthoma Elasticum / therapy
  • Translational Research, Biomedical


  • ABCC6 protein, human
  • Multidrug Resistance-Associated Proteins