Blue Rubber Bleb Nevus Syndrome:
Case Report and Literature Review
Full Article (PDF file)
Daniela Dobru1, Nicolae
Seuchea1, Marian Dorin2, Valentin Careianu3
1) Gastroenterology Department.
2) 2 nd Surgery Clinic, University of Medicine and Pharmacy.
3) Imaging Department, Emergency Hospital, Târgu Mures
Blue Rubber Bleb Nevus Syndrome
( BRBNS) is a rare disorder characterized by multiple cutaneous
venous malformations in the skin and gastrointestinal tract
associated with intestinal hemorrhage and iron deficiency anemia.
Other organs may also be involved.
BRBNS has a potential for
serious or fatal bleeding. The causes of this syndrome are unknown.
Its most common presentation is in the form of sporadic cases,
but dominant autosomal inheritance has been described. Although
it was first recognized by Gascoyen in 1860, only one hundred
years later did Bean further describe these lesions and coined
the term BRBNS. A MEDLINE search yielded about 200 case reports
published till 2003.
We present a case of this
syndrome diagnosed in a 16- year – old patient with both
upper and lower gastrointestinal bleeding. He had severe anemia
and venous swellings on the trunk. Similar lesions were found
in the stomach, bowel and on his foot. In addition, we review
the available literature on the epidemiology, clinical features,
associated conditions, diagnosis and treatment.
Blue rubber bleb nevus syndrome
- hemorrhage - anemia- vascular malformation - endoscopic therapy