Blue rubber bleb nevus syndrome overview

Blue rubber bleb nevus syndrome which is also known as BRBNS is a rare congenital vascular anomaly in which blood vessels do not develop normally especially in the gastrointestinal area. BRBNS shows characteristic blebs that are fluid-filled blisters as visible and well rounded lesions (nevus) .

Blue rubber bleb nevus syndrome (BRBNS) was first discovered by Gascoyen, in 1860.

The exact pathogenesis of blue rubber bleb nevus syndrome is not fully understood.It is thought that blue rubber bleb nevus syndrome is caused by gene mutation.

The exact cause of blue rubber bleb nevus syndrome has not been identified yet. But recent studies shows that blue rubber bleb nevus syndrome may be caused by gene mutations.

Blue rubber bleb nevus syndrome must be differentiated from dermatologic manifestations of kaposi Sarcoma, diffuse neonatal hemangiomatosis, familial glomangiomatosis, genetics of klippel-trenaunay-weber syndrome, maffucci syndrome and mucosal venous malformation syndrome.

Blue rubber bleb nevus syndrome (BRBNS) is is a rare disease which affects gastrointestinal blood vessels and skin blood vessels. The exact cause of blue rubber bleb nevus syndrome is unknown. About 200 cases of blue rubber bleb nevus syndrome have been reported worldwide.  

There are no established risk factors for Blue Rubber Bleb Nevus Syndrome.

There is insufficient evidence to recommend routine screening for blue rubber bleb nevus syndrome.

Common complications of blue rubber bleb nevus syndrome include GI bleeding, Intussusception, and Intestinal perforation.Depending on the extent of the blue rubber bleb nevus syndrome at the time of diagnosis, the prognosis may vary.

There are no other diagnostic studies associated with blue rubber bleb nevus syndrome.

The majority of patients with blue rubber bleb nevus syndrome present with symptoms typically at birth like blisters on the skin, bleeding and anemia.

The presence of skin lesions on physical examination is highly suggestive of blue rubber bleb nevus syndrome.

Laboratory findings consistent with the diagnosis of blue rubber bleb nevus syndrome include fecal occult blood test, CBC and urinalysis

There are no ECG findings associated with blue rubber bleb nevus syndrome.

There are no X-ray findings associated with blue rubber bleb nevus syndrome.

Endoscopic ultrasonography (EUS) may be helpful in the diagnosis of blue rubber bleb nevus syndrome. Findings on an EUS suggestive of blue rubber bleb nevus syndrome include hypoechoic lesions and gastric vascular malformations.

Abdominal CT scan may be helpful in the diagnosis of blue rubber bleb nevus syndrome. Findings on CT scan suggestive of blue rubber bleb nevus syndrome include volvulus, intussusception, infarction, and GI bleeding.

MRI may be helpful in the diagnosis of blue rubber bleb nevus syndrome. Findings on MRI suggestive of blue rubber bleb nevus syndrome include detecting extracutaneous lesions etc.

There are no other imaging findings associated with blue rubber bleb nevus syndrome.

Technetium Tc-99m may be helpful in the diagnosis of blue rubber bleb nevus syndrome. Findings suggestive of blue rubber bleb nevus syndrome include it gives extent of bleeding in GI tract

The mainstay of treatment for blue rubber bleb nevus syndrome is interferon-beta, octreotide, iron supplementation and blood transfusions.

Surgery is not the first-line treatment option for patients with blue rubber bleb nevus syndrome (BRBNS). Surgery is usually reserved for patients with either repeated or severe bleeding or cosmetic purposes

There are no established measures for the primary prevention of blue rubber bleb nevus syndrome.

There are no established measures for the secondary Prevention of blue rubber bleb nevus syndrome.

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