Blue rubber bleb nevus syndrome overview

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Pathophysiology
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Epidemiology and Demographics
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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) .

Historical Perspective

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

Pathophysiology

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.

Causes

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.

Differentiating Blue rubber bleb nevus syndrome from Other Diseases

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.

Epidemiology and Demographics

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.  

Risk Factors

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