Blue rubber bleb nevus syndrome

What causes blue rubber bleb nevus syndrome?

Currently the cause of blue rubber bleb syndrome is not known.

Last updated on 05-01-20

What is blue rubber bleb nevus syndrome?

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.

Last updated on 05-01-20

Is blue rubber bleb nevus syndrome genetic?

Most cases of blue rubber bleb nevus syndrome are thought to occur by chance (sporadically). There have been a few cases of families with multiple family members affected with blue rubber bleb syndrome. In these families, the condition appears to be inherited in an autosomal dominant manner.

There is a genetic syndrome similar to blue rubber bleb nevus syndrome called familial venous malformation syndrome. This syndrome is caused by mutations (changes) in a gene called TEK. Familial venous malformation syndrome is passed through families in an autosomal dominant fashion.

Last updated on 05-01-20

How can I find more information on blue rubber bleb nevus?

Additional information resources on blue rubber bleb nevus syndrome can be found on the Office of Rare Diseases Research resource page on this syndrome at the following link:

Last updated on 05-01-20

How might blue rubber bleb nevus syndrome be treated?

Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary. Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding (hemorrhage).

Last updated on 05-01-20

Selected Full-Text Journal Articles

Blue rubber bleb nevus - Journal articles

Ertem D, Acar Y, Kotiloglu E, Yucelten D, Pehlivanoglu E. Blue rubber bleb nevus syndrome. Pediatrics. 2001 Feb;107(2):418-20.

Last updated on 04-27-20

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