Blue Rubber Bleb Blue Rubber Bleb Nevus Nevus SyndromeSyndrome

History

In 1860, Gascoyen first described an association between cavernous hemangiomas of the skin and similar lesions in the gastro-intestinal tract.

In 1958, Bean described these lesions in depth and used the term blue rubber bleb nevus syndrome to describe them

People with Blue Rubber Bleb Nevus Syndrome develop anemia from chronic gastro intestinal bleeding, and require lifelong treatment with iron and blood transfusions.

SymptomsSymptoms AnemiaAnemia HemorrhageHemorrhage Joint problemsJoint problems Brain dysfunctionBrain dysfunction Intussusceptions: growth in the surface Intussusceptions: growth in the surface

area of a cell by the deposit of new area of a cell by the deposit of new particles between existing particles in the particles between existing particles in the cell wallcell wall

Bowel infarction: localized necrosis Bowel infarction: localized necrosis resulting from obstruction of the blood resulting from obstruction of the blood supplysupply

Internal bleedingInternal bleeding

Genetic ProfileGenetic Profile

Some cases are autosomal dominant Some cases are autosomal dominant inheritanceinheritance

Most cases are sporadic without Most cases are sporadic without family tendenciesfamily tendencies

Less than 180 cases have been Less than 180 cases have been reported worldwide reported worldwide

The syndrome effects all races and The syndrome effects all races and sexessexes

TreatmentTreatment

Life threatening cases can be safely Life threatening cases can be safely removed by surgeryremoved by surgery

Argon plasma coagulation Argon plasma coagulation In severe cases amputation of limbs In severe cases amputation of limbs

may be usedmay be used Blood transfusionsBlood transfusions Specialized diets to accommodate Specialized diets to accommodate

loss of ironloss of iron

ResourcesResources

http://emedicine.medscape.com/article/1082839-overhttp://emedicine.medscape.com/article/1082839-overviewview

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356993http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356993//

http://www.wellness.com/reference/conditions/blue-http://www.wellness.com/reference/conditions/blue-rubber-bleb-nevus-syndrome/prevention-and-rubber-bleb-nevus-syndrome/prevention-and-treatmenttreatment