What Is Blue Rubber Bleb Nevus Syndrome?
Blue rubber bleb nevus syndrome is a disease that affects only a small population. It includes abnormalities in the blood vessels. It is known to affect the internal organs like the digestive system and the respiratory system. Most of the clinical signs of this condition are seen in the skin. Many blisters that are filled with fluid will be visible on the skin. Blue rubber bleb nevus syndrome is caused by a genetic mutation sometimes. It was explained by William Bean in 1958 for the first time. It is also known as Bean syndrome. This condition is mostly a venous malformation. In some patients, it is related to hemangioma. The term nevus refers to a non-cancerous mole on the skin. They do not cause any harm, and it does not require any particular treatment.
Where Does It Occur?
As it is mostly a skin disorder, the presentations of this disease are seen on the skin. Some lesions are seen in the intestine. Other sites where the lesion could be found are:
- Large intestine. The distal part is known to show more lesions.
- Central nervous system.
- Muscles.
- Liver.
Most of them are young patients and are known to be affected at the infant stage or very soon after birth.
What Is the Gender Prevalence?
Blue rubber bleb nevus syndrome does not pertain to any particular gender. It affects both male and female gender equally.
What Are the Causes of Blue Rubber Bleb Nevus Syndrome?
The exact cause of blue rubber bleb nevus syndrome is not known. Genetic causes have been identified in many patients. Severe chromosomal abnormalities can result in blue rubber bleb nevus syndrome. It is a syndrome that is sporadic in type. It is known to recur at regular intervals.
What Are the Symptoms of Blue Rubber Bleb Nevus Syndrome?
The symptoms might vary from one person to another. Some patients show only skin lesions. Some patients are known to report gastrointestinal symptoms. The extreme complication of blue rubber bleb nevus syndrome is gastrointestinal bleeding. Patients who are diagnosed with blue rubber bleb nevus syndrome are known to suffer from intensive bleeding in complicated conditions. This has resulted in death in some patients.
How Is Blue Rubber Bleb Nevus Syndrome Diagnosed?
The disease is very rare, and there are poor sources for doctors and research scientists to work on the information on this condition. So, this syndrome becomes highly unpredictable. Except the complications, the syndrome is generally not very harmful. The initial stage of blue rubber bleb nevus syndrome would be the clinical diagnosis of the skin lesions and lesions on the other organs. Angiomas present in the scalp and sole of the feet is known to be a suspecting factor.
On clinical examination, the physician might indicate that the lesion is soft, rubbery, and tender on palpation. The characteristic feature of this lesion is that it is usually compressible, hemorrhagic, and is known to refill after compression.
The lesions in the gastrointestinal tract can be primarily identified by endoscopy. The gastrointestinal tract can be visualized by illumination in the tract.
The internal organs can be diagnosed using other methods. They are:
Ultrasound: It is a technique that uses ultrasound waves for imaging and visualization purposes. This imaging technique is also called sonography. The ultrasound diagnostic technique uses an instrument called a sonogram. It serves as a good aid for diagnosing the internal structures. Some radiologists recommend you to come after fasting for 10 to 12 hours so that the undigested food particles do not block the sound waves.
Computed Tomography: It is an essential diagnostic method of visualizing the soft tissues, blood vessels, and cutaneous regions. It is highly technique sensitive. The patient will be asked to lie down in a medical laboratory setup. Huge tunnel-like instruments will be made to rotate at various angles. Cross-sectional images of the particular organs can be obtained. Recent advances have helped in obtaining three-dimensional images of the required organ in different angulations.
Magnetic Resonance Imaging: It is a popular imaging technique that uses high magnetic field waves to generate images of the organs.
What Are the Treatment Options for Blue Rubber Bleb Nevus Syndrome?
The treatment should be recommended according to the severity of the blue rubber bleb nevus syndrome. The lesions that are present in the gastrointestinal tract does not need to be removed until your doctor strongly recommends it.
The common treatment options are:
Surgical Removal: This would be the most preferred option for most surgeons, especially if the lesion is very disturbing to the patient. This would require highly skilled doctors to perform surgery. It does not require hospitalization for more than two days. It is necessary to get an opinion from your doctor before discharge. Surgical options are safe for removal of the lesions in the gastrointestinal tract.
Laser: It is the best non-invasive procedure. This treatment option will have less pain for the patient. Laser therapy uses light amplification devices in its therapeutic procedures. The only disadvantage of this treatment option is that some patients report a recurrence of the lesion even after the treatment. It is also not economical for all cases.
Electrodesiccation: In this procedure, high-frequency waves are applied with the help of the electrodes. It also uses curettage. The surgical method of electrodesiccation removes the nevus cells by a scraping mechanism.
Cryotherapy: Cryotherapy is recommended for patients who are experiencing pain. This treatment is best for curing localized lesions. This treatment method is also known as cold therapy.
Sclerotherapy: Sclerotherapy is a process of injecting the medications directly into the lymph vessels and blood vessels. The medication is known to cause shrinkage of the vessels. It is the best option for vascular malformations. It is a safe and effective treatment method for children.
Supplementation of iron would be one of the conservative management options.
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