Blue Rubber Bleb Nevus

Blue rubber bleb nevus syndrome

Overview

Type of disease: Rare conditions

Blue rubber bleb nevus syndrome is characterized by lesions on the skin and sometimes in body organs, particularly the intestine. These lesions represent areas where the underlying veins and other blood vessels did not develop properly. The underlying malformations are present from birth, however lesions may not be evident until later in life. The size, number, location, and severity of associated lesions vary from person to person. The skin lesions can be painful or tender to the touch. The affected areas may be prone to sweating (hyperhidrosis). Lesions in the intestine 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 legions. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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