Blue Rubber Bleb Nevus Syndrome: A Delayed Diagnosis

Antunes, Artur; Peixe, Bruno; Guerreiro, Horácio

doi:10.1159/000450876

Cited by 8 publications

(4 citation statements)

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“…Most of them are sporadic but some genetic mutations of the TEK gene (endothelial tyrosine kinase receptor) have been described . Lesions appear mostly at birth or during early childhood, but 4% BRBNS started in adulthood up to 82 years old . BRBNS involve the skin in 93% of cases and GI tract in 76%, respectively, but it can be found in lungs, kidneys, spleen, liver, or bladder.…”

Section: Discussionmentioning

confidence: 55%

An unusual cause of gastrointestinal bleeding in a hemodialysis patient

Aron

Couturier

Sinayoko

et al. 2018

Hemodialysis International

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Iron deficiency caused by gastrointestinal (GI) bleeding is a common cause of anemia in hemodialysis patient. Herein, we report the case of an 89-year-old hemodialysis patient who presented with acute anemia and melena. Endoscopy found gastritis and diverticulosis without active bleeding. A capsule endoscopy (CE) was then performed and revealed multiple vascular lesions that lead to the diagnosis of Blue Rubber Bleb Nevus syndrome (BRBNS). This rare disease is associated with multiple venous malformations in the skin and the GI tract, usually observed in children. The patient developed 4 months latter 2 skin lesions compatible with BRBNS. Treatment included blood transfusion and intravenous iron supplementation. We reported an unusual presentation of venous malformation BRBS which differs from angioectasia, in an adult hemodialysis patient. Overall prognosis is good.

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Section: Discussionmentioning

confidence: 55%

An unusual cause of gastrointestinal bleeding in a hemodialysis patient

Aron

Couturier

Sinayoko

et al. 2018

Hemodialysis International

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“…Los nevus pueden desarrollarse a cualquier edad, (1 ,3) en el estudio de Jin XL, et al (3) , se pudo identificar que el 30% de los casos tenían MV desde el nacimiento, el 9% empezó en la infancia y adolescencia, y 4% en la edad adulta, sin embargo puede presentarse a cualquier edad, tal como lo menciona el caso de una paciente de 82 años, cuyas MV habían aparecido hace pocos años atrás, lo que coincide con lo descrito en nuestro caso, pues si bien se diagnostica a los 68 años, estas malformaciones también estuvieron presentes unos cuantos años antes, por su parte Gião Antunes AS, et al (11) , coinciden con nuestro caso en cuanto a la edad de diagnóstico (80 años), discrepando un tanto en cuanto al tiempo de aparición de las MV, pues en su caso se presentaron desde la infancia.…”

Section: Discussionunclassified

Síndrome de Bean y albinismo: reporte del primer caso en Ecuador

Ortiz-Culcay¹,

Hernández-Lojano²,

Zurita-Alvarado³

et al. 2019

RMV

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Blue Rubber Bleb Nevus syndrome (BRBNS) or its acronym Bean syndrome is characterized by venous malformations (MV) distributed in multiple anatomical areas, predominantly in the skin and gastrointestinal (GI) tract. Symptomatology is commonly manifested with hemorrhagic episodes and consequent chronic secondary anemia due to deficit. We present the clinical case of a female albino patient of 68 years of age, who came for acute abdominal pain to this we add a chronic rectorrhagia, when performing the physical examination, the presence of venous malformations (MV) characterized by bluish, compressible and heterogeneous nodules, located in the lower lip, chin, perianal region and extremities, as well as pain on palpation in the right hypochondrium. The laboratory analysis revealed low hemoglobin and hematocrit values and other parameters suggestive of iron deficiency anemia, in the colonoscopy report multiple venous malformations (MV) were disseminated, disseminated with rectal predominance, the diagnosis was compatible with Bean Syndrome by the association of MV in skin and Gastrointestinal tract and secondary chronic anemia. The management was clinical symptomatic and palliative surgery, with a favorable evolution. The association of albinism and Bean syndrome are not reported in the international medical literature, considering this the first case in Ecuador as a not very frequent pathology but with important secondary complications, this syndrome should be included as a cause of harmless venous malformations, digestive bleeding, chronic anemia and occlusive effects of hollow viscera

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“…Altogether, given the multifocal, venous vascular malformations, we established a diagnosis of blue rubber bleb nevus syndrome (BRBNS). The patient is currently on oral iron supplementation with a good clinical response (hemoglobin 12.4 g/dL) BRBNS (or Bean's disease) is a rare disease mainly characterized by multiple venous malformations that can affect any organ system, but frequently affecting the cutaneous and gastrointestinal systems [1][2][3]. The etiology and pathogenesis remain uncertain [1,3].…”

mentioning

confidence: 99%

“…The patient is currently on oral iron supplementation with a good clinical response (hemoglobin 12.4 g/dL) BRBNS (or Bean's disease) is a rare disease mainly characterized by multiple venous malformations that can affect any organ system, but frequently affecting the cutaneous and gastrointestinal systems [1][2][3]. The etiology and pathogenesis remain uncertain [1,3]. The majority of cases are sporadic, although autosomal inheritance has been identified associated with the chromosome 9p [1,2].…”

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confidence: 99%

An Unusual Cause of Anemia: Throwing the Cat among the Pigeons

Mendo¹,

Barosa²,

Figueiredo³

et al. 2021

GE Port J Gastroenterol

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Blue rubber bleb nevus syndrome • Anemia Uma causa incomum de anemia: atirando o gato para entre os pombos Palavras Chave Síndrome blue rubber bleb nevus • Anemia This is an Open Access article licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense), applicable to the online version of the article only. Usage and distribution for commercial purposes requires written permission.

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Blue Rubber Bleb Nevus Syndrome: A Delayed Diagnosis

Cited by 8 publications

References 4 publications

An unusual cause of gastrointestinal bleeding in a hemodialysis patient

An unusual cause of gastrointestinal bleeding in a hemodialysis patient

Síndrome de Bean y albinismo: reporte del primer caso en Ecuador

An Unusual Cause of Anemia: Throwing the Cat among the Pigeons

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