Fabry Disease

Fabry disease is a genetic disorder that appears as pinpoint hemorrhages on the skin and other tissues of the body. The name comes from the name of the French researcher who described the disease in the 19th century.

Symptoms

The first sign of Fabry disease is the appearance of small brown or black spots on the skin. Over time, these spots enlarge and develop into large nodules that can be painful and cause discomfort. The nodules are usually localized on the thighs, legs, arms, back and chest. Sometimes the nodules can develop into black streaks called "angiokeratomas", which look like stretched scars. Patients with Fabry disease may also experience health problems such as bleeding, heart disease, kidney failure, and other complications.