Summary
Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder that mainly affects elastic fiber in the skin, retina, and arteries. Sporadic cases, but also autosomal recessive and dominant forms have been documented. One gene has been located on the short arm of chromosome 16, but has not yet been identified. Skin lesions appear between the age of 10 and 20, and progressively increase in number and severity. Classically lesions appear mainly in flexural areas of the neck, armpits, elbows and groin, and consist in yellow papules that may merge to form orange-peeling-like plaques. The retina's elastic membrane may tear, as can be seen by ophthalmoscopy, or angiographic streaks appear on the angiography, altering vision in 40% of cases. In some families arterial elastic fibers degenerate and arteries become calcified early in the course of the disease. The most common symptom is intermittent claudication of the lower limbs ; coronary disorders are more rare. In 10% of cases, gastrointestinal hemorrhage occur, often during pregnancy or in young children. Skin lesions and possible ophthalmic or vascular complications call for specialized management of the disease. *Author: D. Germain, M.D. (Sept. 1999)*
