Blue Rubber Bleb Nevus

Definition

Definition of Blue Rubber Bleb Nevus
Blue rubber bleb nevus syndrome (or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus", or "Bean syndrome") is a rare disorder that consists mainly of abnormal blood vessels affecting the gastrointestinal tract.

Symptoms

Symptoms of Blue Rubber Bleb Nevus
No malignant transformation of cutaneous or internal lesions has been reported. Some patients may have severe bleeding from the GI tract (bowel), which can be fatal, while most bleeding from the GI tract is slow, minor, and chronic, resulting in iron deficiency anemia. Multiple transfusions and periodic observance can modify the morbidity of this disease. Lesions involving the bones and joints can cause profound discomfort and loss of function for the patient which would require amputations in some cases. In rare cases, central nervous system involvement can be fatal. Lesions may also appear on the patient's skin. Cutaneous lesions can often be seen at birth or they manifest early in childhood. These lesions are usually highly characteristic, as numerous, protruding, dark blue, compressible blebs, a few millimeters to several centimeters in diameter and varied in hue and shape, most of which are asymptomatic but some may be spontaneously painful or tender to the touch. They may be few or may reach hundreds. These lesions may appear blue, black, purple-red, or red and may be flat or elevated. Skin lesions rarely bleed unless they are traumatized. Progression in size and number of blebs may occur as the patient grows older. Lesions are mostly found on the skin and in the small intestine and distal large bowel. They may also occur in less common areas such as the nasopharynx, lungs, liver, heart, and brain.

Causes

Causes of Blue Rubber Bleb Nevus
The causes of this syndrome are unknown. 152 cases have been described worldwide.

Diagnosis

Diagnosis of Blue Rubber Bleb Nevus
Consult with your doctor.

Treatment

Treatment of Blue Rubber Bleb Nevus
Screening for occult blood loss from GI system, screening for iron deficiency anemia may be needed. X-rays have a limited role in this condition. Endoscopic evaluation of the GI system is probably the ideal modality to rule our GI system venous malformations. MRI and nuclear scan have also been used in some patients. No specific treatment is needed for skin lesions in most patients. Laser has been used in some patients. Bleeding from GI lesions is the major concern in these patients. GI bleeding is usually managed conservatively with iron supplementation and blood transfusions when necessary. Endoscopic sclerotherapy and/or laser can be effective in selected patients. A surgical approach can also be used in some patients (recurrences may occur after excision). The prognosis depends on the extent of visceral organ involvement. Most patients have a normal life span.

Prognosis

Prognosis of Blue Rubber Bleb Nevus
Consult with your doctor.

Prevention

Prevention of Blue Rubber Bleb Nevus
Consult with your doctor.