Blue rubber bleb nevus syndrome
Encyclopedia
Blue rubber bleb
nevus
syndrome
(or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus", or "Bean syndrome") is a rare disorder
that consists mainly of abnormal blood vessel
s affecting the gastrointestinal tract
.
It was characterized by William Bean in 1958.
. It carries significant potential for serious bleeding. Lesion
s are most commonly found on the skin
and in the small intestine
and distal large bowel. It usually presents soon after birth. Although no genetic link has yet been determined, it has been suggested that it may represent a manifestation of familial venous malformation, and may be associated with TEK tyrosine kinase
.
Bleb (medicine)
In medicine, a bleb is a large blister filled with serous fluid. Blebs can form in a number of tissues due to different pathologies, including frostbitten tissues, and as a cause of spontaneous pneumothorax. In the lungs, a bleb is a collection of air within the layers of the visceral pleura...
nevus
Nevus
Nevus is the medical term for sharply-circumscribed and chronic lesions of the skin. These lesions are commonly named birthmarks and moles. Nevi are benign by definition...
syndrome
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
(or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus", or "Bean syndrome") is a rare disorder
Rare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
that consists mainly of abnormal blood vessel
Blood vessel
The blood vessels are the part of the circulatory system that transports blood throughout the body. There are three major types of blood vessels: the arteries, which carry the blood away from the heart; the capillaries, which enable the actual exchange of water and chemicals between the blood and...
s affecting the gastrointestinal tract
Gastrointestinal tract
The human gastrointestinal tract refers to the stomach and intestine, and sometimes to all the structures from the mouth to the anus. ....
.
It was characterized by William Bean in 1958.
Presentation
BRBNS is a venous malformation, formerly, though incorrectly, thought to be related to the hemangiomaHemangioma
A hemangioma of infancy is a benign self-involuting tumor of endothelial cells, the cells that line blood vessels. It usually appears during the first weeks of life and sometimes resolves by age 10. In more severe case hemangioma may have permanency, if not treated by a physician...
. It carries significant potential for serious bleeding. Lesion
Lesion
A lesion is any abnormality in the tissue of an organism , usually caused by disease or trauma. Lesion is derived from the Latin word laesio which means injury.- Types :...
s are most commonly found on the skin
Skin
-Dermis:The dermis is the layer of skin beneath the epidermis that consists of connective tissue and cushions the body from stress and strain. The dermis is tightly connected to the epidermis by a basement membrane. It also harbors many Mechanoreceptors that provide the sense of touch and heat...
and in the small intestine
Small intestine
The small intestine is the part of the gastrointestinal tract following the stomach and followed by the large intestine, and is where much of the digestion and absorption of food takes place. In invertebrates such as worms, the terms "gastrointestinal tract" and "large intestine" are often used to...
and distal large bowel. It usually presents soon after birth. Although no genetic link has yet been determined, it has been suggested that it may represent a manifestation of familial venous malformation, and may be associated with TEK tyrosine kinase
TEK tyrosine kinase
Angiopoietin-1 receptor is a protein that in humans is encoded by the TEK gene.TEK has also recently been designated CD202B .-Interactions:...
.