Percorsi clinici
Dalla pelle all’intestino: le diagnosi differenziali di una sindrome rara
From skin to gut: differential diagnosis of a rare syndrome
Elisa Benelli1, Chiara Pierobon1, Andrea Taddio1, Massimo Maschio2, Irene Berti2, Stefano Martelossi2, Alessandro Ventura1, Marco Carbone3
1Clinica Pediatrica, IRCCS Materno-Infantile “Burlo Garofolo”, Università di Trieste
2Clinica Pediatrica, 3SC Ortopedia Pediatrica, IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
Marzo 2013 - pagg. 167 -172
Abstract
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.
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Corrispondenza: elisa.benelli@gmail.com