Dermatologists and molecular geneticists at Jefferson Medical College (JMC) have, for the first time, identified specific gene mutations in families with an inherited, connective tissue disorder that sometimes can lead to blindness and early heart attacks. The disorder is called pseudoxanthoma elasticum (PXE).

"These findings allow us to provide accurate diagnosis and carrier detection within a family at risk for PXE using a simple blood test," says Jouni Uitto, MD, PhD, Professor and Chair of Dermatology and Cutaneous Biology, JMC, and senior author of the study. "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.

"This is the first gene to be identified as having mutations causing this disease," says Dr. Uitto, who is also director of the Jefferson Institute of Molecular Medicine. 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. They reported their findings in the Proceedings of the National Academy of Sciences.

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