Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome | |
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File:BRNSCase-36.jpg
The cutaneous vascular malformations of blue rubber bleb nevus syndrome.
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Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
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.[1][2][3]
Presentation
BRBNS is a venous malformation,[4] formerly, though incorrectly, thought to be related to the hemangioma. It carries significant potential for serious bleeding.[5] Lesions are most commonly found on the skin and in the small intestine and distal large bowel. It usually presents soon after birth.[6] 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.[7][8] 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
See also
References
- ↑ synd/740 at Who Named It?
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- ↑ Online 'Mendelian Inheritance in Man' (OMIM) BLUE RUBBER BLEB NEVUS -112200
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External links
- Miami Herald article describing day in the life of a sufferer
- Blue rubber bleb nevus; Bean syndrome at NIH's Office of Rare Diseases
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