Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome
File:BRNSCase-36.jpg The cutaneous vascular malformations of blue rubber bleb nevus syndrome.
Classification and external resources
Specialty
ICD-10	D18
ICD-9-CM	228.0
ICD-O	9121/0
OMIM	112200
eMedicine	derm/56
Patient UK	Blue rubber bleb nevus syndrome

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 vessels affecting the gastrointestinal tract.

It was characterized by William Bean in 1958.

Presentation

BRBNS is a venous malformation, formerly, though incorrectly, thought to be related to the hemangioma. It carries significant potential for serious bleeding. Lesions are most commonly found on the skin and in the small intestine and distal large bowel. It usually presents soon after birth. BRBNS used to be thought of as having no genetic inheritance however, in 1995 doctors discovered that information to be false, it has been suggested that it may represent a manifestation of familial venous malformation, and may be associated with TEK tyrosine kinase. Gareth Fisher, a medical student at a London hospital interviewed a patient with the condition in 2012, who disclosed he had a dizygotic twin brother with the same condition, supporting a genetic link. Some of this patient's malformations were in the proximity of 20mm in diameter.

Diagnosis

File:IntestinesCase-36-back.jpg

Visceral venous malformations seen in blue rubber bleb nevus syndrome. Lesions chiefly affect the gut (image below), are fragile, and bleed easily.

See also

• Bart syndrome
• List of cutaneous conditions

External links

• Birthmarks.us
• DermAtlas 216

• Miami Herald article describing day in the life of a sufferer
• Blue rubber bleb nevus; Bean syndrome at NIH's Office of Rare Diseases