Blue Rubber Bleb Nevus Syndrome

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.

Symptoms Anemia Anemia Hemorrhage Hemorrhage Joint problems Joint problems Brain dysfunction Brain dysfunction Intussusceptions: growth in the surface area of a cell by the deposit of new particles between existing particles in the cell wall Intussusceptions: growth in the surface area of a cell by the deposit of new particles between existing particles in the cell wall Bowel infarction: localized necrosis resulting from obstruction of the blood supply Bowel infarction: localized necrosis resulting from obstruction of the blood supply Internal bleeding Internal bleeding

Genetic Profile Some cases are autosomal dominant inheritance Some cases are autosomal dominant inheritance Most cases are sporadic without family tendencies Most cases are sporadic without family tendencies Less than 180 cases have been reported worldwide Less than 180 cases have been reported worldwide The syndrome effects all races and sexes The syndrome effects all races and sexes

Treatment Life threatening cases can be safely removed by surgery Life threatening cases can be safely removed by surgery Argon plasma coagulation Argon plasma coagulation In severe cases amputation of limbs may be used In severe cases amputation of limbs may be used Blood transfusions Blood transfusions Specialized diets to accommodate loss of iron Specialized diets to accommodate loss of iron

Resources bleb-nevus-syndrome/prevention-and-treatment bleb-nevus-syndrome/prevention-and-treatment