| • | autosomal recessive (and dominant form) |
| • | affects skin, eyes, and cardiovascular system |
pathogenesis:
| • | basic defect unknown; fragmented and calcified elastic fibers in skin, eyes, and arteries |
clinical:
| • | onset during childhood; average age = 13 years old |
| • | yellow papules and redundant skin, especially on sides of neck and axilla: “plucked chicken skin” |
| • | yellow papules on mucous membranes |
| • | eyes: angioid streaks = rupture in Bruch’s membrane of the retina, secondary to elastic fiber defect) |
| • | CV(caused by the degeneration/calcification of the elastic fibers in the vascular media): |
| • | gastric artery hemorrhage |
| • | GI-bleeds (especially in pregnancy) |
| • | angina/MI (because early CAD and HTN) |
differential diagnosis:
| • | clinically - looks PXE-like |
| • | histology - connective tissue nevus-like (thickened collagen bundles and only slightly decreased elastic fibers) |
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prognosis:
| • | shortened life span secondary to cardiovascular complications |
| • | progressive loss of vision |
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