Clinical Manifestations

PXE results in a variety of signs and symptoms. The number, type, and severity of signs of PXE vary from person to person. The effects of PXE may include: skin changes; changes in the retina of the eye that may result in significant loss of central vision; changes in the cardiovascular system that may involve calcification of arteries and decreased blood flow in the arms and legs or even the heart and brain; changes in the gastrointestinal system that may lead to bleeding in the stomach or intestines.

PXE often causes visible changes in the skin and the earliest changes are usually on the sides of one's neck. The areas of the body that are most affected are those which bend and flex. They may resemble a rash or have a "cobblestone" appearance. These lesions in the skin can progress slowly and unpredictably, from the neck downward. With time, the lesions can come together to form plaques, and the skin becomes loose and wrinkly.

PXE affects the retina of the eye, with the first change, visible only during an ophthalmologic examination with dilated pupils, being the peau d'orange appearance of the retina. This sign usually appears in childhood or early adolescence. Angioid streaks, breaks in the Bruch´s membrane, also appear during adolescence or early adulthood but neither peau d'orange nor angioid streaks directly affect the vision. However, small blood vessels beneath the Bruch´s membrane can take advantage of the breaks in the membrane and grow through the membrane, a process known as subretinal choroidal neovascularization (CNV). Sometimes these blood vessels leak blood, causing distortion and loss of central vision. While people with PXE may lose so much central vision that they become legally blind, almost all people with PXE continue to have peripheral vision.

PXE frequently causes mineralization in the elastic layers of medium-sized arteries. This causes narrowing of blood vessels, so affected individuals may have decreased blood flow to the extremities. This decreased flow of blood to the arms and legs may also cause intermittent claudication when walking or exercising. Arterial narrowing and reduced blood flow can also cause angina, heart attack, small strokes and intestinal angina. Very rarely, PXE may also cause acute upper gastrointestinal bleeding.

Additional general information about the clinical manifestations of PXE.

Primary Researchers

Lionel Bercovitch
Anne De Paepe
Qiujie Jiang
Mark Lebwohl
Georges Lefthériotis
Ludovic Martin
Ivonne Pasquali-Ronchetti
Ellen Pfendner
Daniela Quaglino
Jouni Uitto
Olivier Vanakker

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