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Pseudoxanthoma Elasticum

Overview :

PXE was first reported in 1881 by Rigal, but the defect in elastic fibers was described in 1986 by Darier, who gave the condition its name. PXE is also known as Groönblad-Strandberg-Touraine syndrome and systemic elastorrhexis.

The course of PXE varies greatly between individuals. Typically it is first noticed during adolescence as yellow-orange bumps on the side of the neck. Similar bumps may appear at other places where the skin bends a lot, like the backs of the knees and the insides of the elbows. The skin in these areas tends to get thick, leathery, inelastic, and acquire extra folds. These skin problems have no serious consequences, and for some people, the disease progresses no further.

Bruch's membrane, a layer of elastic fibers in front of the retina, becomes calcified in some people with PXE. Calcification causes cracks in Bruch's membrane, which can be seen through an ophthalmoscope as red, brown, or gray streaks called angioid streaks. The cracks can eventually (e.g., in 10-20 years) cause bleeding, and the usual resultant scarring leads to central vision deterioration. However, peripheral vision is unaffected.

Arterial walls and heart valves contain elastic fibers that can become calcified. This leads to a greater susceptibility to the conditions that are associated with hardening of the arteries in the normal aging population'high blood pressure, heart attack, stroke, and arterial obstruction'and, similarly, mitral valve prolapse. Heart disease and hypertension associated with PXE have been reported in children as young as four to 13 years of age. Although often appearing at a younger age, the overall incidence of these conditions is only slightly higher for people with PXE than it is in the general population.

Arterial inelasticity can lead to bleeding from the gastrointestinal tract and, rarely, acute vomiting of blood.

PXE is rare and occurs in about 1 in every 160,000 people in the general population. It is likely, though, that PXE is underdiagnosed, because of the presence of mild symptoms in some affected persons and the lack of awareness of the condition among primary care physicians.

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