title: Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation.
abstract: Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by discrete venous malformations of varying size and appearance that are present on the skin and within the gastrointestinal tract. The characteristic cutaneous lesions consist of deep-blue, soft, rubbery blebs, which are easily compressible. A serious complication is gastrointestinal bleeding. Because venous malformations were described historically as cavernous hemangiomas, the lesions of BRBNS were also inappropriately called hemangiomas in the literature. We describe 3 cases to delineate the venous malformations of BRBNS and to highlight their variable onset of presentation and progression. In one case, a venous malformation was noted during a prenatal ultrasound evaluation at 5 months gestation. The other 2 cases demonstrated a lack of the classic cutaneous lesions at birth. BRBNS consists of multiple venous malformations, rather than hemangiomas as described. Subcutaneous venous malformations may occasionally be the sole presenting finding in patients with this unusual syndrome, and may be evident even in the prenatal period.
authors.affiliation: Division of Dermatology, University of California-San Diego School of Medicine, San Diego, CA 92113, USA.
authors.forename: Walter K
authors.initials: WK
authors.lastname: Nahm
authors.forename: Sharon
authors.initials: S
authors.lastname: Moise
authors.forename: Lawrence F
authors.initials: LF
authors.lastname: Eichenfield
authors.forename: Amy S
authors.initials: AS
authors.lastname: Paller
authors.forename: Laura
authors.initials: L
authors.lastname: Nathanson
authors.forename: Denise M
authors.initials: DM
authors.lastname: Malicki
authors.forename: Sheila Fallon
authors.initials: SF
authors.lastname: Friedlander
mesh_terms: D005260:Female; D005770:Gastrointestinal Neoplasms / Q000151:congenital / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018329:Nevus, Blue / Q000098:blood supply* / Q000151:congenital; D012867:Skin / Q000098:blood supply; D012878:Skin Neoplasms / Q000098:blood supply* / Q000151:congenital; D013848:Thigh; D016216:Ultrasonography, Prenatal; D014680:Veins / Q000002:abnormalities*