Pseudoxanthoma elasticum

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is an inherited disorder of connective tissue, characterized by abnormal elastotic fibers in the skin, blood vessels and eye.
Both autosomal dominant and recessive variants show skin laxity, 1-3 mm yellowish papules involving the lateral aspect of the neck, upper trunk and elsewhere, and angioid streaks of the retina.
Biopsy of the papules shows the characteristic elastotic change with calcium deposition.

Treatment:

  • Genetic counselling
  • Avoidance of smoking and the use of Aspirin
  • Check lipids and encourage a good cardiac diet
pseudoxanthoma elasticum

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