Blue Rubber Bleb Nevus Syndrome: Case Report

Yep-Gamarra, Victor; Rodríguez-Ulloa, C.; Donet, Jean A.; Tello, Luis; Rodas, Jhony; Díaz-Vélez, Cristian; Vásquez-Tirado, Gustavo Adolfo

doi:10.14309/00000434-201410002-01170

Cited by 2 publications

(6 citation statements)

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“…Most patients with BRBNS are diagnosed at birth or during early infancy: 30% at birth, 9% at preschool age, 48% at infancy, 9% in adolescence, and 4% in adulthood (5). Diagnosis is almost always suspected based on characteristic cutaneous lesions.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…The most common GI manifestations involve bleeding and ferropenic anemia, followed by abdominal pain due to intussusception, intestinal torsion, and rupture. Malformations can present throughout the entire GI tract, however most of them appear in the small bowel and distal colon (5,6).…”

Section: Clinical Presentationmentioning

confidence: 99%

“…The main clinical presentation includes vascular lesions in the skin and gastrointestinal bleeding; CNS symptoms are infrequent (13%) (5) and have a diverse presentation. Focal neurological symptoms, subarachnoid hemorrhage, and seizures are among the features that may be present (17).…”

Section: Clinical Presentationmentioning

confidence: 99%

“…A further evaluation of the bleeding site is recommended, depending on the location (e.g., endoscopy, colonoscopy) (6). Endoscopy can reveal blue nodules in the intestinal mucosa, which are more prone to bleeding when compared to intestinal nodules (5).…”

Section: Management and Treatment Prognosismentioning

confidence: 99%

“…Spontaneous bleeding is rare, although it may be caused by trauma (3,4). Cutaneous angiomas are found in up to 93% of patients with Bean's syndrome, with GI hemangiomas in 76%, CNS lesions in 13%, liver lesions in 11%, and diverse muscles in 11% (5).…”

Section: Introductionmentioning

confidence: 99%

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Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review

et al. 2020

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Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract. Dermatological lesions, which are the first clinically visible manifestations, appear as skin-colored compressible protuberances or as dark-blue venous nodules, rubbery in consistency. Central nervous system (CNS) manifestations are rare, variable, non-specific, and tend to occur late in the disease, mainly reported as seizures and focal neurological deficits secondary to compression. Most cases occur sporadically, however, an autosomal dominant inheritance pattern has been reported. A 74-year-old male with history of focal epilepsy secondary to possible neurocysticercosis presented at the emergency department due to sudden onset of aphasia, left central facial paralysis, and dysphagia secondary to catastrophic intracerebral hemorrhage. Cerebral MRI showed multiple cerebral cavernous malformations (CCM)-like lesions and, on the general exploration, multiple dark-blue nodules, rubbery in consistency. One week later he died due to complicated pneumonia; a brain autopsy was performed showing multiple vascular malformations. His son had a history of focal epilepsy presumed to be related to neurocysticercosis. He had the same skin lesions and brain MRI pattern. Histological analysis of the skin lesions of the two cases showed venous vascular malformations. A non-systematic review was carried out, in which all case reports of blue nevus syndrome with neurological manifestations in adults were included.

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Section: Clinical Presentationmentioning

confidence: 99%

Section: Clinical Presentationmentioning

confidence: 99%

Section: Clinical Presentationmentioning

confidence: 99%

Section: Management and Treatment Prognosismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review

et al. 2020

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"The Blue Rubber Bleb Nevus Syndrome: A Delayed Diagnosis Made Possible by Video-Capsule Endoscopy. Case Report and Review of the Literature"

Destro

2023

BJSTR

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Blue rubber bleb nevus syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations. The most common clinical presentation is symptomatic anemia due to GI bleeding, both overt and occult. The present study reports a 15-year-old female with iron-deficiency anemia refractory to therapy. She underwent various unsuccessful investigations to find the origin of the anemia.We only belatedly reached a diagnosis based on video-capsule endoscopy (VCE) findings. Cutaneous vascular malformations and multiple hemangiomas in the stomach and the small bowel revealed by endoscopy led to the diagnosis of BRBNS. We should consider VCE as a diagnostic modality for suspected GI vascular malformations in children.

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Blue Rubber Bleb Nevus Syndrome: Case Report

Cited by 2 publications

References 0 publications

Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review

Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review

"The Blue Rubber Bleb Nevus Syndrome: A Delayed Diagnosis Made Possible by Video-Capsule Endoscopy. Case Report and Review of the Literature"

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