Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?

J Dtsch Dermatol Ges. 2011 Aug;9(8):586-93. doi: 10.1111/j.1610-0387.2011.07658.x. Epub 2011 Mar 16.
[Article in English, German]


Pseudoxanthoma elasticum (PXE) is a heritable multi-system disorder manifesting with characteristic cutaneous lesions, associated with ocular findings and cardiovascular involvement. The skin lesions, yellowish papules which coalesce into plaques of inelastic and leathery skin, demonstrate by histopathologic and ultrastructural examinations ectopic mineralization of dermal connective tissues, primarily the elastic structures. PXE is inherited in an autosomal recessive fashion due to mutations in the ABCC6 gene. Significant insights into the pathogenesis of PXE have been recently obtained from observations on the Abcc6(-/-) knockout mouse which mimics the genetic, histopathologic and ultrastructural features of PXE. This mouse model has provided a platform to test various treatment modalities to counteract the mineralization phenotypes. One of the intriguing findings emanating from these studies is that supplementation of the mouse diet with magnesium, at levels that are ∼5-fold higher than those in control diet, completely inhibits the development of tissue mineralization. These and related observations suggest that changes in the diet might counteract the progression of PXE and improve the quality of life of patients with this, currently intractable, disease.

Publication types

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

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Animals
  • Chromosome Aberrations
  • DNA Mutational Analysis
  • Disease Models, Animal
  • Disease Progression
  • Dose-Response Relationship, Drug
  • Genes, Recessive / genetics
  • Humans
  • Magnesium / administration & dosage*
  • Mice
  • Multidrug Resistance-Associated Proteins / genetics
  • Phenotype
  • Pseudoxanthoma Elasticum / diagnosis
  • Pseudoxanthoma Elasticum / diet therapy*
  • Pseudoxanthoma Elasticum / genetics
  • Quality of Life


  • ABCC6 protein, human
  • ATP-Binding Cassette Transporters
  • Abcc6 protein, mouse
  • Multidrug Resistance-Associated Proteins
  • Magnesium