What is Blue Rubber Bleb Nevus Syndrome or BRBNS?
The Blue Rubber Bleb Nevus Syndrome or BRBNS is an extremely rare vascular disorder that affects the blood vessels around the regions of the different internal organs of the human body or areas just under the skin. One of the common symptoms of Blue Rubber Bleb Nevus Syndrome or BRBNS is the presence of skin lesions either at birth time or even during the childhood period. These are venous malformations that are multifocal in their nature. Blue Rubber Bleb Nevus Syndrome often emerges due to abnormal development of the blood vessels at the embryonic stage. The condition was first explained in the year 1860 by Gascoyne. However, it was not till the year 1958 when the concept was further looked into by William Bennett Bean, which is why the condition is also referred to as Bean Syndrome.
Symptoms of Blue Rubber Bleb Nevus Syndrome or BRBNS
Blue Rubber Bleb Nevus Syndrome or BRBNS is characteristically present with multiple skin lesions which are soft in their nature. The lesions are tender in texture and are filled with blood (1). These lesions can be of different colors like black, red-purple, red or even dark blue in color. They can be compressed quite easily and can be found in the areas of the soles and the trunks of the feet and can also be found on the upper limbs as well. The skin lesions can grow over a period of time and can increase in their sizes. However, they have not been reported to be cancerous in their nature. The affected blood vessels are commonly found in the area of the gastrointestinal tracts with the small intestine being one of the most common places where they are found. These lesions that can be found in the small intestine can bleed and can lead to cases of anemia in the patient. The intensity of anemia can differ from patient to patient. In this condition, iron replacement is one of the most required procedures of treatment. In several cases, blood transfusion could also be required for a proper treatment process. Gastrointestinal lesions can also cause problem for the process of bowel movement and can also affect muscle formation in the body (2).
Causes Blue Rubber Bleb Nevus Syndrome or BRBNS
The causes of Blue Rubber Bleb Nevus Syndrome or BRBNS are rather erratic. The exact reason behind the condition is not yet very well known by the medical fraternity. However, the problem could be a rare genetic disorder where it happens to be autosomal in nature. In other words, if the child inherits an affected gene from any one of its parents then the child may have the condition. It has been seen that patients with the condition did have people with the same problem in their families. Blue Rubber Bleb Nevus Syndrome affects both females and males in an equal manner. So far 150 cases of Blue Rubber Bleb Nevus Syndrome have been reported and they do not belong to any single part of the world in particular. People from every ethnicity have been diagnosed with this syndrome (1).
Epidemiology of Blue Rubber Bleb Nevus Syndrome or BRBNS
Blue Rubber Bleb Nevus Syndrome can be found in people of different age groups. Individuals from 2 years old child to adults can be diagnosed with it from all over the world. No cause as such has been found so that the real root cause of the problem can be understood. Both males and females can be affected by Blue Rubber Bleb Nevus Syndrome or BRBNS.
Diagnosis of Blue Rubber Bleb Nevus Syndrome or BRBNS
The diagnosis of Blue Rubber Bleb Nevus Syndrome or BRBNS can be done through physical examination in most of the cases. However, as and when required the GI tract is checked with the help of endoscopy. More research is being conducted in this domain so that the exact causes of the problem can be understood well. This will help the doctors to treat and cure their patients better in the future.
Treatment of Blue Rubber Bleb Nevus Syndrome or BRBNS
The treatment that is required for the condition of Blue Rubber Bleb Nevus Syndrome or BRBNS is two faceted where on one side the iron therapy is done to enable the development of iron in the body. On the other hand, the removal of the lesions is taken care of. In the first cases where iron needs to be replaced in the body in severe cases, blood transfusion is used for the patients (3). When it comes to removing the lesions on the body different methods can be used like laser therapy, application of chemicals to injections that will lead to the natural collapse of the lesion or a proper surgical removal. If the lesions are inside the intestine then removing the lesions is never the first choice. This is done only when it is prolonged and continued bleeding and continual blood transfusions are required by the patient due to the lesions. However, this can be a lengthy and rather a complex surgical process. In many cases, such surgical procedures have been bitterly condemned as these lesions can recur even after they have been removed from the system successfully the first time. Again there is another set of opinion holders who states that congenital malformations should not recur after they have been removed from the intestines. This is why the operation has been stated to be one of the most effective ways through which GI bleeding resulting out of Blue Rubber Bleb Nevus Syndrome or BRBNS can be treated.
In certain conditions, it has been seen that an application of Argon plasma coagulation and that of octreotide acetate can be given to the patient suffering from Blue Rubber Bleb Nevus Syndrome and experiencing GI bleeding. However, this process can offer temporary relief and not stop bleeding for a prolonged time. In case the bleeding becomes too severe, it can also turn out to be a fatal condition (1).
The lesions in Blue Rubber Bleb Nevus Syndrome or BRBNS are quite a special type of venous malformations. They happen to be small, multifocal and circumscribed. They could be found in any part of the body but they are seen in plenty just below the skin and near the gastrointestinal tracts. The nature of bleeding that happens out of these lesions is continuous and slow rather than being sudden and really serious at any given point. The literature that has been accumulated on this condition is only out of the case studies that have been done on the condition.