The following information may help to address your question:
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.
[1][2][3][4]
Last updated: 11/14/2012
What are the signs and symptoms of blue rubber bleb nevus syndrome?
Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. In general, blue rubber bleb nevus syndrome is characterized by skin spots (nevi) that may be few to hundreds in number. Size tends varies from millimeters to several centimeters in length. These nevi are made of blood vessels and are spongy, meaning they can easily be pressed upon. When pressure is released, they refill with blood and regain their original shape. They tend to be blue but can vary in color and shape. The surface of the nevi may be smooth or wrinkled and they often have a rubbery feel. They do not tend to bleed spontaneously, but are fragile and will bleed if injured. They may be tender to the touch. They may also be associated with increased sweating in the area of the skin legions. The number and size of legions may worsen with advancing age.
[4]
Nevi may also be found in the intestines (particularly the small intestine) in individuals with blue rubber bleb nevus syndrome. These nevi can bleed spontaneously causing anemia.[1][2][5][6] Most bleeding from the gastrointestinal tract is slow[4]; however, sudden quick bleeding (hemorrhage) is possible. Other serious complications of gastrointestinal legions may include intussusception, bowel infarction, and even death.
Blue rubber bleb nevus syndrome can affect other body organs as well. Nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, mouth, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder.[4][7] Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion.
Last updated: 11/14/2012
What causes blue rubber bleb nevus syndrome?
Currently the cause of blue rubber bleb syndrome is not known.
[4][5][6]
Last updated: 11/14/2012
Is blue rubber bleb nevus syndrome genetic?
Most cases of blue rubber bleb nevus syndrome are thought to occur by chance (sporadically).
[1][2][3][4][5][6] 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.
[5][6] 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.
[6]
Last updated: 11/9/2012
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.
[1][2][3][4] Surgery to remove an affected area of
bowel may be recommended for repeated or severe bleeding (
hemorrhage).
[7]
Last updated: 11/14/2012
How can I find more information on blue rubber bleb nevus?
Last updated: 11/9/2012
How can I find a genetics professional in my area?
Last updated: 11/30/2017
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GARD Information Specialist
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