Blue Rubber Bleb Nevus Syndrome

Also known as: BRBNS

What is Blue Rubber Bleb Nevus Syndrome?

This syndrome is a rare disorder characterized by multiple venous malformations most commonly affecting the skin and gastrointestinal tract. BRBNS is important due to its potential for serious or fatal bleeding. Cutaneous manifestations include multiple, protuberant, dark blue, compressible blebs that range in size from a few millimeters to several centimeters in diameter. Three types of lesions have been described: blue, rubbery. Blood-filled sacs with a smooth or wrinkled surface that are easily compressible and promptly refill when pressure is released; large, disfiguring, cavernous lesions that may compress vital structures; and blue, irregular macules.
Lesions may be painful and increased sweating on the skin overlying the lesion may be noted.
GI symptoms may include rectal bleeding or dark stools, which may lead to anemia, fatigue, and in some severe cases, fatal hemorrhage due to spontaneous rupture.  Skeletal lesions may lead to fractures and bone deformities, causing pain and difficulty walking.  Although rare, blue rubber bleb nevi have been reported in most organs of the body.  

Treatment for Blue Rubber Bleb Nevus Syndrome

Treatment is patient-centered and close follow-up with specialists depending on the organ system involved is key to optimizing care.

This page was last updated on: 1/9/2017 12:09:19 PM

From the Newsdesk

Young Girl Born with Birthmark on Her Lip has Surgery that Will Change Her Life
12/14/2016 — Just a few weeks after Brianna was born, her mother noticed a red growth on her daughter’s upper lip.  Her pediatrician referred the family to specialists who diagnosed the growth as an Infantile Hemangioma. On December 7th, Dr. Chad Perlyn of Nickalus Children's Hospital, removed the hemangioma.
Dr. Ana Duarte Named 2016 Physician of the Year by the Vascular Birthmarks Foundation
10/13/2016 — The Vascular Birthmarks Foundation presented Dr. Ana Duarte with a 2016 Physician of the Year Award for outstanding service in the diagnosis and treatment of children affected by a vascular birthmark.