Venous malformations in blue rubber bleb nevus syndrome: Variable onset of presentation

Walter K. Nahm, Sharon Moise, Lawrence F. Eichenfield, Amy S. Paller, Laura Nathanson, Denise M. Malicki, Sheila Fallon Friedlander*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

75 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)101-106
Number of pages6
JournalJournal of the American Academy of Dermatology
Volume50
Issue number5 SUPPL.
DOIs
StatePublished - May 2004

ASJC Scopus subject areas

  • Dermatology

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