We also can look at children of affected individuals and do presymptomatic testing, or even prenatal testing. The symptoms of PXE typically begin during adolescence or a person's early 20s.
Lesions make the skin appear severely sun-damaged.
The person may have angioid streaks, which are abnormalities in the back of the eye. Unchecked, PXE can lead to progressive loss of vision and blindness. The skin and eye symptoms are accompanied by gastrointestinal bleeding and cardiovascular disease, including circulation problems and early heart attacks. The disorder affects approximately one in 25,000 to 50,000 people. He and colleagues studied 13 persons with the damaged gene in 8 families and compared them to 20 family members without the disease-causing mutation.