Dalla pelle all'intestino: Le diagnosi differenziali di una sindrome rara

Translated title of the contribution: From skin to gut: Differential diagnosis of a rare syndrome

Elisa Benelli, Chiara Pierobon, Andrea Taddio, Massimo Maschio, Irene Berti, Stefano Martelossi, Alessandro Ventura, Marco Carbone

Research output: Contribution to journalArticlepeer-review


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.

Translated title of the contributionFrom skin to gut: Differential diagnosis of a rare syndrome
Original languageItalian
Pages (from-to)167-172
Number of pages6
JournalMedico e Bambino
Issue number3
Publication statusPublished - Mar 2013

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'From skin to gut: Differential diagnosis of a rare syndrome'. Together they form a unique fingerprint.

Cite this