Blue Rubber-Bleb Nevus Syndrome

Abstract

IN 1860, Gascoyen1 reported an association between cutaneous nevi, intestinal lesions, and gastrointestinal (GI) bleeding. Bean2 separated the blue rubber-bleb nevus syndrome (BRBNS) from other cutaneous vascular lesions and gave the syndrome its name.Demonstration of these lesions has been performed by way of angiography, laparotomy, and autopsy. This case is an example of the BRBNS in which the diagnosis of the GI lesion was made by endoscopy.

Blue Rubber Bleb Nevus Syndrome: Extensive small bowel vascular lesions responsible for gastrointestinal bleeding

“…Cutaneous lesions are usually observed shortly after birth, increasing in size, up to several centimetres, and in number with age and can extend deeply to underlying structures including muscles, joints and bones. The characteristic feature is a 1‐ to 3‐cm nodular rubbery bluish vascular malformation, slightly elevated, which turns to white when compressed 5 . GI tract involvement is thought to be constant in BRBNS with a preferential small bowel and left colonic localisation 6 but lesions may be found anywhere from the mouth to the anus.…”

“…The characteristic feature is a 1-to 3-cm nodular rubbery bluish vascular malformation, slightly elevated, which turns to white when compressed. 5 GI tract involvement is thought to be constant in BRBNS with a preferential small bowel and left colonic localisation 6 be found anywhere from the mouth to the anus. Lesions vary in number from few lesions to hundreds and can also vary in appearance (polylobulated, nodular, sessile, pedunculated and ulcerated).…”

Vascular malformations

“…Venous malformations are usually apparent at birth or during early childhood, although onset of symptoms in adulthood has been reported. 129 The most characteristic skin lesion is a compressible blue subcutaneous nodule (Fig 8). Bean 127 likened the appearance of this lesion after compression to a ''rubber nipple.''…”

“…Rectal bleeding and abdominal pain, which may be a consequence of intussusception and hemorrhage, can also occur. 129,131 In addition to anemia, consumptive coagulopathy is commonly observed in these patients, with high D-dimer levels and low fibrinogen, responsible for severe hemorrhages as early as infancy. 132 Venous malformations may also be found in the CNS, orbit, and genitourinary tract.…”

Blue Rubber Bleb Nevus Syndrome

“…This article presents a review of the 22 pediatric patients with BRBN syndrome. Table 1 lists all published cases of BRBN syndrome of pediatric origin since Bean's original description (1,(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22). The male:female ratio is 14:8.…”