Blue rubber bleb nevus syndrome is a rare congenital disorder with hallmarks of venous malformations on the skin and viscera.
Abbreviations BRBNS: blue rubber bleb nevus syndrome GI: gastrointestinal mTOR: mammalian target of rapamycin ISSVA: International Society for the Study of Vascular Anomalies PI3K: phosphoinositide-3-kinase.
KEY WORDS: Blue rubber bleb nevus syndrome Vascular malformation Enteroscope Sclerotherapy.
Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic disorder with characteristic vascular malformations of the skin gastrointestinal tract and less often other internal organ.1 Over 250 cases of BRBNS have been reported in the English literature since Gascoyen's first presentation in 1860.2 The skin lesions in BRBNS are often first noticed at birth or in the neonatal period but rarely cause serious clinical problems which must be managed.
Neurological picture: Cranial neuropathy in the
blue rubber bleb nevus syndrome. J Neurol Neurosurg Psychiatry 2010;81:1207-8.
Blue rubber bleb nevus syndrome (BRBNS) describes a clinical entity that presents with cutaneous and visceral venous malformations, especially in the gastrointestinal tract.1 BRBNS can also present as cutaneous lesions only without systemic involvement.2
Blue rubber bleb nevus syndrome (BRBNS) was first described by Gascoyen in 1860 and in 1958, Dr.