Pseudoxanthoma Elasticum

  • Dermal connective tissue disorder
  • ABCC6 gene → liver produces less anti-mineralization factors due to absent ABCC6 protein
    • Ectopic mineralization → calcification of connective tissues (eyes, arterial walls and dermis)
  • Typical skin findings
    • Clumped, calcified elastic fibers in the dermis → grouped yellowish papules typically on the neck or flexural areas giving a “plucked chicken” appearance
  • Systemic risks
    • Angioid streaks (eyes) → weakening of Bruch membrane
    • Calcification of medium-sized vessels leads to atheromatous plaques → risk of peripheral artery disease
    • Gastric artery hemorrhage
    • Hematemesis
    • Epistaxis
    • Increased risk of MI and stroke