• Overview
• Inheritance
• Symptoms
  • The Kidney
  • The Brain and Nerves
  • The Heart
  • The Eyes
  • The Skin
  • The Digestive Tract
• Testing
• Treatment
• Resources

The Skin

The most visible sign of Fabry disease is the presence of angiokeratomas ("an-gee-o-care-uh-toe-mahs"), clusters of small, reddish-purple marks on the skin. These marks are harmless and may be hidden by clothing, since they usually occur in the area between the waist and the knees. Angiokeratomas often do not appear until adolescence or young adulthood. They may become larger and more numerous with age. They can be removed, for cosmetic reasons, with laser treatment.

Many people with Fabry disease also have difficulty with sweating, due to GL-3 accumulation in the blood vessels surrounding the sweat glands. Affected people may sweat very little (hypohidrosis) or not at all (anhidrosis). Lack of sweating can cause fever, sensitivity to hot or cold weather, and overheating during exercise.