SHM Converge Scientific Abstract ePoster Gallery-FEELING BLUE......ATYPICAL CAUSE OF ANEMIA blue RUBBER BLEB NEVUS SYNDROME

FEELING BLUE......ATYPICAL CAUSE OF ANEMIA

blue RUBBER BLEB NEVUS SYNDROME
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Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, usually sporadic vascular disorder marked by multiple venous malformations of the skin and gastrointestinal tract. Cutaneous lesions are typically compressible, violaceous, and variable in size, often appearing in childhood and increasing over time. GI involvement usually becomes apparent in adulthood and can cause chronic bleeding, leading to recurrent microcytic, transfusion-dependent anemia. Only about 200 cases have been reported, making BRBNS difficult to recognize and often confused with other vascular syndromes such as Maffucci syndrome and Klippel-Trenaunay-Weber syndrome. A key difference is that BRBNS often involves venous malformations in the small intestine, while KTW more commonly affects the colon. Elevated D-dimer levels may support the diagnosis in patients with diffuse venous malformations, especially when skin findings are limited. The underlying cause is commonly linked to mutations in the TEK gene, which encodes the TIE2 receptor involved in endothelial cell signaling and angiogenesis. In multifocal disease, two activating mutations in the same allele have been described. Treatment depends on the number, size, and location of lesions, as well as the patient’s symptoms. Management may include sclerotherapy, endoscopic cauterization, or surgical excision, although lesions can recur. Because BRBNS is so rare, early recognition and reporting of cases are important for improving diagnosis, treatment, and outcomes.

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Zainab Mujahid

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Author List Helen Lavelle, Lee-Ann M. Wagner, Micah C. Brown, Ramin Farboudmanesch, Tirsit Woldeyohanes, Zainab Mujahid

Category Clinical Vignettes

Concept Blue Rubber Bleb Nevus Syndrome

Concept Cutaneous Venous Malformation

Concept Gastrointestinal Venous Malformation

Concept Chronic Bleeding

Concept Microcytic Anemia

Distinguished Non-Finalist

Presenter Organization University of Maryland Capital Regional Medical Center

Presenting Author Zainab Mujahid

Track Adult

Keywords

Blue Rubber Bleb Nevus Syndrome

BRBNS

venous malformations

gastrointestinal bleeding

microcytic anemia

TEK gene

TIE2 receptor

vascular disorder

small intestine

sclerotherapy

Blue Rubber Bleb Nevus Syndrome

Cutaneous Venous Malformation

Gastrointestinal Venous Malformation

Chronic Bleeding

Microcytic Anemia