= recessive hereditary systemic disorder characterized by degeneration of elastic tissue

• Skin
  • redundant skin folds, particularly in flexor regions
  • yellowish xanthomatous papules
  • large amorphous calcific deposits in soft tissue about joints
• Eyes
  • diminished visual acuity due to alteration of chorioretinal structure
  • angioid streaks = reddish brown serrated lines extending from optic disk in a spoke-wheel fashion
• Arteries
  • claudication + decreased pulses
    Histo: tissue degeneration of internal elastic lamina + medial thickening
  • lobulated appearance of arteries (similar to fibromuscular hyperplasia)
  • aneurysm formation
  • vessel calcification at early age
    Cx: GI tract hemorrhage