Most cases are autosomal recessive, meaning if two faulty gene carriers have children, there is a one in four chance of the child having the disease. PXE is diagnosed by skin lesions as well as the presence of angioid streaks, which are abnormalities in the back of the eye, and which can lead to blindness. Circulation problems from the disorder can lead to early heart attacks. Dr. Uitto suggests that reducing calcium intake and avoiding cigarette smoking may help slow disease progression. Those with a family history of the disease should have regular eye examinations to head off possible problems.
Plastic surgery is an option to remove excess sagging skin.
His group would next like to study additional PXE families to try to better understand how the damaged gene is inherited.