From skin to gut: differential diagnosis of a rare syndrome

The paper describes a child with chronic sideropenic anemia, who from birth presented a venous lesion of the ankle, which relapsed after surgery removal, and multiple small blue skin lesions. Through the description of the case the differential diagnosis of major vascular malformations and of the most common causes of sideropenic anemia in children is discussed. Thanks to EGDS, colonoscopy and videocapsule endoscopy, multiple small venous lesions on the whole GI tract have been identified, thus blue rubber bleb nevus syndrome has been diagnosed. It is a rare disease characterized by the presence of polymorphic venous lesions affecting always skin and gastrointestinal tract, and, less often, also other districts. The severity of the disease is more often due to the amount of the intestinal blood loss. Actually, there is no curative therapy, but a recent work suggests that Sirolimus could be useful because of its antiangiogenetic power.