BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional protein leads to ectopic mineralization that most apparent elastic tissues skin, eyes, and blood vessels. Dermatologic manifestations consist small yellow papules on nape sides neck flexural areas coalesce into reticu...

very severe choroidoretinitis, often complicated by blindness. Dominant type II PXE, on the other hand, is a much milder form of the disease, with a macular rash (though identical histological changes), no vascular changes, and a very mild retinal degeneration, which does not progress to either blindness or choroidoretinitis. Younger members of these families often have prominent choroidal vess...