Blue+Rubber+Bleb+Nevus

Emmeline Wheeler 1st Block Biology I Honors



** Blue Rubber Bleb Nevus Syndrome ** Only about 150-180 cases of Blue Rubber Bleb Nevus Syndrome (also known as “BRBNS” or “Bean’s Syndrome”) exist worldwide, making it // extremely // rare. It was first discovered by G. Gascoyen in 1860, who reported the association between lesions of the skin and intestines and bleeding in the GI tract. In 1958, William Bean further described the lesions and who devised the name “Blue Rubber Bleb Nevus Syndrome” (BRBNS). It has been theorized that an autosomal dominant trait is to blame for this disease. BRBNS is nearly impossible to detect with pre-natal testing. Normally, symptoms of this disease do not become apparent until a few years after birth. Cases of BRBNS have been reported in males and females from almost all races although most cases have been reported to be found in Caucasians. Blue Rubber Bleb Nevus syndrome is a progressive disease, however it is not fatal and most patients are able to live out a normal life span.

Usually only the skin and GI tract are affected by the lesions, or blebs. The central nervous system, thyroid, eyes, lungs, liver, spleen, and bladder can be affected. The lesions are composed of dilated blood filled vessels lined by a layer of cells with a thin connective tissue. Blebs are most commonly found on the soles of the feet, the torso, and limbs. Normally dark blue and a few millimeters in size, the blebs can vary in size, shape, and color. Additionally, the lesions have a rubbery texture and refill if depressed. The blebs can get larger and become more frequent as a person gets older. Contrary to what doctors previously believed, the lesions are not cancerous.

Generally, lesions on the skin are not painful, but can become sensitive and tender to the touch without warning. The lesions bleed rarely, if ever. Blebs are usually most apparent at birth. In some cases they do not show up until early childhood, before the age of two. Lesions in the GI tract normally only occur in areas such as the large bowel and the small intestine. These lesions typically become noticeable during childhood, when blood is found in the person’s stool. Unlike the skin lesions, lesions in the GI tract have been noted to bleed often and profusely. This can happen quickly and without notice, rapidly decreasing the person’s normal blood levels. Bleeding can potentially be fatal to the patient if they do not get transfusions quickly enough. Sometimes patients will cough up or vomit blood from the internal bleeding. Patients may also experience numerous nose bleeds, bleeding from their anus, and have blood in their excrement.

Screening for large amounts of blood loss in the GI tract is usually done, along with testing for iron deficiencies. Serial transfusions and surveillance of the disease can also help to reduce some blood loss. A few patients have also developed anemia due to the chronic bleeding sometimes caused by lesions in the GI tract. Iron supplements are used to help control the anemia. Patients with BRBNS develop severe paleness of skin due to the anemia, caused by chronic blood loss. Patients also complain of fatigue, which comes from low iron stores and anemia. As long as the bleeding in the GI tract and the anemia are treated, people are usually able to cope well with BRBNS.

Furthermore, lesions affecting the central nervous system can cause the patient to have severe seizures and possibly lead to death, although this rarely ever happens. Patients that have neurological blebs can get a MRI of their brain, allowing doctors to determine the severity of them. Seizures caused by blebs on the brain can normally be controlled with medications. A small percentage of patients suffer from paralysis, requiring physical therapy. Blebs near the brain may hemorrhage, thus impairing the part of the brain which controls vision. This can lead to permanent blindness in the patient. Brain involvement with the disease rarely occurs in patients with BRBNS. Occasionally lesions are located on a patient’s bones and joints, causing them some discomfort and loss of mobility. In some cases, amputations are required.

In very severe cases of BRBNS, there can be bowel dysfunction. The blebs can completely restrict blood flow to the bowel, which in turn, causes bowel dysfunction, or bowel infarction. This too can lead to death.

Currently, there are no specific treatments for skin lesions, but if they are life-threatening, surgeries or laser therapy can used to remove the bleb. If the patient has cosmetic concerns, they normally seek the help of a dermatologist. Others who are concerned about their physical appearance attend physiological counseling.

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 * // Below is a karyotype of a normal human female. //**
 * // Currently there is no karyotype for Blue Rubber Bleb Nevus Syndrome.


 * Information Sources: **

[] [] [] [] [] [] [|http://www.wellness.com/reference/conditions/blue-rubber-bleb-nevus-syndrome/symptoms-and-causes]

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