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Pseudoxanthoma elasticum (PXE) is a serious hereditary disorder of connective tissue that involves the elastic tissue in the skin, blood vessels, and eyes. The principal skin manifestations are a distinctive peau d'orange surface pattern resulting from closely grouped clusters of yellow (chamois-colored) papules in a reticular pattern on the neck, axillae and other body folds. The effects on the vascular system include gastrointestinal (GI) hemorrhage, hypertension occurring in young persons and resulting from involvement of renal arteries, and claudication. Ocular manifestations ("angioid" streaks and retinal hemorrhages) can lead to blindness.


Causes:

Biochemical defect is not known. Abnormalities of both collagen and elastic tissues result in fragmented and calcified elastic fibers in skin, eyes, arteries.


Symptoms:

The most characteristic affect of PXE is when it causes the skin around the sides of the neck to discolour.

Affected areas of skin appear thickened.

The skin lesions of PXE are characteristic. They consist of small, yellowish bumps in rows or a lacy pattern, which may join to make large patches. The skin is soft, lax and slightly wrinkled. The patches may be slightly pebbly in appearance, which has been described as cobblestoned.

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