There are several families where incomplete family collection has limited our ability to define haplotype completely and accurately. Efforts are currently underway to collect DNA from crucial individuals from these families and to define familial haplotype in an effort to uncover informative ancestral crossover events. PXE is characterized by deposits of CaCO3 and CaPO4 in elastic fibers and abnormalities in collagen fibers in the connective tissue. The skin is usually the first area in which PXE is noticed showing a 2-5 mm yellow to orange papule in a flexural area of the body. As lesions progress, the skin may loose its elasticity and may hang in lax folds.
Cosmetic surgery is used to tighten loose skin folds.
In addition, reducing an affected individual's calcium intake to the minimum daily requirement is thought to slow calcification of the tissues. A second more clinically serious set of symptoms caused by PXE occur in the vascular system. The calcium deposits in the elastic tissue cause the arteries to loose their elasticity. This results in decreased blood flow to the muscles of the extremities. The two most common are angioid streaks and Peau d'Orange.