Clinical Guidance
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and the cardiovascular and gastrointestinal systems. Individuals can present as early as age five years with papules in the skin and/or between ages ten and 30 years with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage. Manifestations of other vascular involvement include gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, and renovascular hypertension, especially at an unexpectedly young age. Table 2. Select Features of Pseudoxanthoma Elasticum (PXE)
Feature | % of Personswith Feature | Comment |
|---|
Skin lesions | 100% | In advanced stages, skin can become lax redundant; sometimes reconstructive surgery is necessary. |
Retinal involvement | 100% | Subretinal neovascularization w/hemorrhage can cause significant visual impairment. |
Vascular (arterialarrowing) | 60% | Can cause claudication, small strokes, intestinal angina, renovascular hypertension, angina /or myocardial infarction |
GI bleeding | 10% | Most commonly in the upper GI tract Based on Skin. Skin lesions are generally the first sign and are present between the first and second decade of life, but are often not recognized as a sign of PXE. The primary skin lesion is a papule that is somewhat darker than the person's natural skin tone, i. |
Source: GeneReviews — "Pseudoxanthoma Elasticum"
