Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by hemangiomas of the skin and gastrointestinal (GI) tract. Hemangiomas are benign or noncancerous tumors of newly formed blood vessels and skin. This syndrome derives its name from these distinctive rubber-like skin lesions.
In 1860 G. G. Gascoyen first reported the association of cutaneous or skin nevi and intestinal lesions with GI bleeding. William Bean in 1958 first used the term BRBNS to describe the rubber-like tumors. Because of his description, BRBNS is sometimes called Bean syndrome. Besides the skin and GI tract, nevi are found on all internal organs and even the brain. Nevi are birth-marks of the skin that are probably hereditary because they are not caused by external factors.
To date, the gene that causes BRBNS has not been identified. The fact that it has not been discovered does not imply the gene does not exist. Some cases of BRBNS are familial and support an autosomal dominant form of inheritance, meaning that only one copy of the nonworking gene is required to manifest the condition. An affected parent has a 50% chance of passing the disorder to his or her offspring. However, most cases are sporadic without a familial tendency.
Less than 180 cases have been reported worldwide. BRBNS affects all races, both sexes, and may be present at birth. The effects on life expectancy are unknown because so few cases exist.
Signs and symptoms
The distinctive blue skin blebs are the hallmark of BRBNS and are not cancerous. Blebs are nevi that measure more than 5 mm around. Composed of skin and large dilated blood vessels, the nevi do not disappear and are found on internal organs such as the stomach, liver, spleen, heart, bone, muscle, bladder, and vulva. They are easily compressible and refill after compression. Occasionally, the nevi are painful. Ranging in size from millimeters to several centimeters, the nevi can number from a few to hundreds. As the patient ages, they can increase in size and number. In rare cases, large lesions can cause skeletal deformities that may lead to amputation.
Nevi are usually present at birth. Sometimes, however, they may not appear until ages two or three.
Patients with BRBNS develop an extreme paleness or pallor of the skin. This paleness results because anemia, a low blood count, decreases the amount of oxygen available to the surface skin. Often they complain of fatigue that results from low iron stores and the anemia.
Chronic or acute bleeding in the GI tract may be detected when blood is present in the stool. Chronic bleeding causes anemia, pallor, fatigue, and low iron stores. Iron supplements will help to increase the blood count. Acute bleeding in the GI tract happens quickly and can rapidly decrease a normal blood count. Immediate blood transfusion or surgery to remove the bleeding nevus can correct this condition.
The first key to diagnosis of this condition is the appearance of the skin nevi. If they do not have the distinct rubbery texture, blue color, and refill after they have been compressed, another diagnosis should be considered. Endoscopy is required to examine the GI tract for nevi. If they are present, then the diagnosis is confirmed. However, lack of nevi in the GI tract does not completely rule out BRBNS, since they may not develop until adolescence.
During an endoscopy a viewing instrument attached to a flexible tube is passed through the mouth to the small intestine. Or, the tube can be inserted through the rectum to the colon. The doctor can then examine the GI tract for nevi.
A patient will require blood tests to assess anemia and iron deficiency as well as a stool test for the presence of blood. Although nevi may be found on the brain, few patients have neurological signs such as seizures or partial paralysis.
Treatment and management
Treatment of BRBNS will depend upon the severity, number, size, and location of the nevi. Skin lesions that are life-threatening can be safely removed by surgery, or laser therapy. The severity of bleeding from GI lesions will determine how they are treated. Surgery can remove single lesions; however, the number may be too great to excise them all. Treatment methods that are less invasive than surgery use endoscopy to tie off bleeding nevi.
Patients who have neurological signs should have a magnetic resonance image (MRI) of the brain to discover the extent of nevi. Seizures can usually be controlled by medications. Physical therapy may improve paralysis.
Although BRBNS is a chronic, progressive disease it does not appear to be fatal. If the GI bleeding and anemia are treated, the patient will usually cope well. If a patient expresses concerns about his or her physical appearance psychological counseling should be considered.
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Nevus Network, The Congenital Nevus Support Group. PO Box 1981, Woodbridge, VA 22193. (703) 492-0253. <http://www.nevus.org>.
Nevus Outreach, Inc. 1616 Alpha St., Lansing, MI 48910. (517) 487-2306. <http://www.nevus.org>.
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Suzanne M. Carter, MS, CGC