Blue Rubber Bleb Nevus Syndrome Symptoms, Causes, Radiology, Treatment

When blood vessels fail to form properly in a portion of the skin or in any other organ, it is known as blue rubber bleb nevus syndrome. A nevus is a mark or lesion that represents faulty blood vessels. Despite the fact that the nevus may not be noticeable at birth, the intrinsic blood vessel anomalies are mostly present from the beginning. Each person has a unique combination of congenital abnormalities that differ in severity, frequency, and location. Skin lesions may cause pain or tenderness when touched, and they may also make you sweat more easily. Nevi in the intestines have a tendency to bleed on their own, which might result in anemia or other problems. Each person has a unique set of symptoms depending upon the affected organ.

Symptoms:

The symptoms of blue rubber bleb nevus syndrome are different for each person. Small, purple, usually painless blebs on the skin are the predominant symptoms of this condition. Although they can be seen almost anywhere on or in the body, blebs most typically develop on the skin and in the GI tract.

Blebs on the skin seldom bleed, but blebs in the GI tract can trigger serious bleeding. This is because food or bowel movements can irritate the blebs.

Patients who experience bleeding may also report symptoms of anemia, tiredness, and lethargy depending on the frequency and severity of the bleeding.

The signs and symptoms of this disease are manifested mostly on the skin because it is primarily a skin disorder. However, intestinal pathology also reveals the presence of many lesions. Other possible locations for the lesion are:

1. The distal portion of the large intestine
2. Brain and spinal cord
3. Muscles
4. Liver

Causes:

Blue rubber bleb nevus syndrome is not associated with a specific gender. It affects both genders in equal measure. The precise reason behind blue rubber bleb nevus syndrome is unknown at this time. In many patients, the underlying genetic etiology has been established. Blue rubber bleb nevus syndrome might be caused by severe genetic abnormalities. It is a syndrome that manifests itself in a sporadic manner. 

Radiology & Hematology

The blue rubber bleb nevus syndrome can be identified by a physical examination and a review of the patient's medical history. Additionally, your physician might prescribe:

1. Fecal occult blood test, which looks for indications of bleeding from the gastrointestinal tract.
2. CBC for any possibility of anemia
3. Endoscopic examination of the digestive tract to detect and perhaps treat blebs
4. MRI, CT, and x-rays are imaging techniques that can be used to find blebs in the body.

Treatment:

The treatment that is given to children who have blue rubber bleb nevus syndrome is very individualized, and it is determined by the severity of the ailment as well as the complications that are linked with it. Because the ailment can impact various parts of the body, BRBNS-affected children frequently consult physicians and specialists from a variety of medical fields.

Symptomatic therapy is the mainstay of treatment for blue rubber bleb nevus syndrome and comprises

• Anemia brought on by gastrointestinal bleeding is treated with blood transfusions and iron supplements.
• Sclerotherapy is a procedure in which medical professionals inject a substance known as a sclerosant into an aberrant vessel to cause the vessel to congeal and shrink.
• Surgery to remove gastrointestinal blebs causing severe bleeding or painful cutaneous blebs on the body

Because there is a considerable danger of bleeding during surgery, removing gastrointestinal blebs can be extremely challenging. Surgical removal of blebs requires high skills and expertise otherwise the patient may experience a life-threatening risk of bleeding.