This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person. Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis). Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. Other symptoms vary depending on the organ affected. Treatment is tailored to the individual depending on the location and symptoms caused by the affected areas.
For more information, visit GARD.