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Introduction. Blue rubber bleb nevus syndrome is a rare disorder that is characterized by multiple recurrent vascular malformations that involve the skin and the gastrointestinal tract. The disease can present chronic anemia and severe episodes of gastrointestinal bleeding. Case Report. A 41-year-old man was admitted with recurrent episodes of lowe...
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Citations
... Por tratarse de malformaciones venosas de bajo flujo, debe considerarse la posibilidad de trombosis, identificada por dolor a la palpación, calor y edema en las lesiones. Otras posibles complicaciones diferentes a la hemorragia son las calcificaciones y, en casos menos frecuentes, la presencia de coagulopatía de consumo, trombocitopenia y, por supuesto, todas las complicaciones secundarias a la hemorragia según su volumen y tiempo de instauración (2,3) . ...
... Las ayudas diagnósticas pueden iniciarse con ecografía endoscópica, que en caso de no contar con personal con experiencia o de obtener resultados inconclusos, tendrá que complementarse con resonancia magnética con contraste venoso, arterial y con supresión grasa (2) . En cuanto a las posibilidades diagnósticas de laboratorio, paraclínicos como la sangre oculta en heces, uroanálisis, hemograma y ferrocinética permitirían identificar una hemorragia no detectada (3) . ...
... El tratamiento del BRBNS es sintomático; por tanto, debe corregirse el déficit de hierro o realizarse transfusiones de acuerdo con la gravedad de las hemorragias, así como proceder a terapias específicas como escleroterapia, ligaduras con bandas o fotocoagulación e incluso resecciones segmentarias o colectomías (3) . Las lesiones en la piel podrán resecarse mediante cirugía o láser. ...
El síndrome de nevos azules cauchosos (BRBNS, por sus siglas en inglés) o síndrome de Bean se caracteriza por la presencia de malformaciones venosas de bajo flujo en la piel y en el tubo digestivo. Es una entidad rara de causa desconocida, con casos espontáneos y otros con presentación autosómica dominante. Las lesiones pueden estar presentes al nacimiento o en la infancia, mientras que en otros casos son evidentes a lo largo de la vida por su aumento de tamaño y número.
... Most cases occur sporadically; however, TEK gene mutations may also cause BRBNS with autosomal dominant inheritance. [4] The most recent literature review in 2021 found around 350 cases of BRBNS with diverse clinical presentations. 21% of the patients were from US, 11,7% from China, 8,9% from Japan, 7,6% from Spain, 7% from India, 5,2% from Turkey, 4.3% from France, there were also reports from other countries, such as Germany, Portugal, Italy, Canada, etc. ...
... BRBNS is a rare venous malformation syndrome; to date, only ~350 cases with diverse clinical presentations have been reported globally [2], and only 3 pediatric cases have been reported in Taiwan [3][4][5]. The estimated incidence of BRBNS is low at about 1:14,000 births [6], and it is usually a sporadic disorder. Due to its rarity, a delayed diagnosis leading to potentially severe consequences is possible. ...
Refractory anemia is not uncommon in pediatric patients, and anemia caused by gastrointestinal tract bleeding should always be kept in mind. Aside from infection or intestinal malrotation related bleeding, vascular malformation should also be considered. Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder consisting of multiple venous malformations. Lack of experience in pediatric BRBNS might lead to delayed diagnosis or misdiagnosis. Herein, we report a case of an eleven-year-old boy with recurrent pallor appearance and weakness diagnosed with BRBNS. After a thorough examination, he was treated with endoscopic polypectomy, and further iron supplements and folic acid. He is now under regular follow-up at our outpatient department. No complication is noted for six months. BRBNS is a rare venous malformation syndrome that mostly involves skin and the gastrointestinal tract. Multidisciplinary approach should be arranged for diagnosis and management. Up to date, no consensus for BRBNS treatment has been reached. Management usually depends on clinical symptoms and severity of damage of involved organs. The options of treatment include conservative, medical, endoscopic, and surgical management.
... The incidence of this syndrome is only 1:14000. 6 BRBNS is considered as a sporadic disorder; 1 however, a few cases presented a family history of this syndrome. 7 The pathogenesis of BRBNS is still unclear. ...
... It might cause short-bowel syndrome if the lesions are extensive, 12 and it is believed that lesions will recur due to the extensive nature of the venous malformations. 6,7 Systemic drugs such as corticosteroids, α-interferon, and octreotide were sometimes used to decrease angiogenesis. 16,17 However, there was insufficient evidence about the prognosis of these cases. ...
Blue rubber bleb nevus syndrome is a very rare systemic vascular malformation frequently affecting the skin and the gastrointestinal tract. The pathogenesis of the disease is still unclear, and the standard treatment does not exist. This study reports two blue rubber bleb nevus syndrome cases, of which the second patient received the TEK gene mutations detection and got a low-dose sirolimus therapy, compared with the first patient who was not treated with sirolimus. The report shows some positive findings of TEK gene mutations and the efficacy of sirolimus treatment. We postulate that the TEK gene mutations play an important role in the pathogenesis. The mutations of different locations of the TEK gene cause a wide range of activating TIE2 mutations, which could stimulate the mammalian target of rapamycin signaling pathways to mediate angiogenesis, resulting in different clinical phenotypes of cutaneomucosal venous malformations. Sirolimus could effectively block the upstream and downstream factors of mammalian target of rapamycin signaling pathways to achieve the antiangiogenic effect. The initial dose of sirolimus can be 0.05–0.1 mg/kg/d for a trough level of 5–15 μg/L in the treatment of blue rubber bleb nevus syndrome. However, a lower-dose sirolimus is also effective while minimizing the side effects.
... Blue rubber bleb nevus syndrome (BRBNS) [OMIM % 112200] is a rare condition with an estimated prevalence of 1 in 14,000 births. 1 Around 250 cases have been reported in the literature till date. It was first recognised by Gascoyen in the year 1860, and William Bennett Bean later described it in detail, naming it "Blue rubber bleb nevus syndrome or Bean's syndrome". ...
... It is characterised by numerous venous malformations in the skin and viscera, particularly in the gastrointestinal tract. 1 Other organs such as liver, spleen, kidneys, bladder, lungs, and brain may also be rarely involved. ...
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder in which there is development of multiple venous malformations and haemangiomas in the skin and visceral organs. The lesions mostly involve the skin and gastrointestinal systems but other organs, including the liver, muscles, and the central nervous system, can also be involved. If untreated, affected individuals develop severe anaemia. Most cases are managed with iron supplementation and blood transfusions but some may require surgical resection, endoscopic sclerosis and laser photocoagulation. Here, we present a case of BRBNS in a four-year-old girl with multiple cutaneous lesions, melena and severe anaemia. Review of South Asian literature showed that only two cases (besides ours) have been reported from Pakistan and the rest were from India. This highlights the lack of awareness of BRBNS among physicians in Pakistan and the rest of South Asian countries.
Keywords: Blue Rubber Bleb Nevus Syndrome, Child, Pakistan.
Continuous...
... Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic disease with an incidence around 1 in 14,000 births [4]. e disease typically affects Caucasians more than African-Americans and Asians, with an equal incidence in males and females [5]. ...
Blue Rubber Bleb Nevus Syndrome (BRBNS), also known as Bean Syndrome, is a rare condition characterized by vascular ectasias that typically present systemically. Most diagnoses are made in early childhood due to cutaneous lesions in Caucasians with familial inheritance. Treatment is usually patient centered due to the wide variance in clinical presentation of the disease. Here, we present a case of BRBNS in a 65-year-old African-American patient with episodic gastrointestinal (GI) bleeding with no previous history. This case emphasizes the need for a higher clinical suspicion of the disease in patients with recurrent GI bleeding.
... Blue rubber bleb nevus syndrome (BRBNS) is an extremely unusual disorder characterized by multifocal venous malformations involving various organs, with the affected organs mainly including the skin, gastrointestinal (GI) tract, and other visceral organs. [1][2][3][4] The morbidity of BRBNS is very low and has been reported in more than 200 cases in an up-to-date MEDLINE search. [5] The most frequent clinical manifestations of this syndrome are GI bleeding and secondary iron-deficiency anemia (IDA). ...
... BRBNS is a rare disease associated with congenital vascular malformations in the skin and the GI tract, with an incidence of approximately 1:14,000 births. [2,8,9] The first report of the disease was described by Gascoyen in 1860, [10] but the syndrome initially received its name (BRBNS, also called Bean syndrome) by Bean in 1958. [11] Patients with BRBNS have a variety of venous malformations involving in various organs, including the liver, spleen, heart, eyes, and central nervous system. ...
... [4,19] GI lesions can affect the mucosa from the oral cavity to the anus, but are more common in the small intestine and are prone to bleeding, usually leading to chronic IDA. [2,20] In the present case, the patient had representative clinical features of the syndrome, such as skin lesions, GI bleeding, and severe IDA. One of the lessons learned from this case was that the GI lesions of BRBNS can also cause an abnormal intestinal peristaltic rhythm. ...
Rationale:
Blue rubber bleb nevus syndrome (BRBNS) is an extremely rare disorder characterized by multifocal venous malformations involving various organs such as the skin and gastrointestinal tract. Severe complications of BRBNS, such as intussusception, volvulus, and intestinal infarction are rarer and require surgery. This report describes a 33-year-old male of BRBNS complicated with intussusception that was successfully diagnosed and treated with surgery.
Patient concerns:
A 33-year-old Chinese man presented with persistent, colicky pain accompanied by nausea, abdominal distension, and dizziness. The patient presented with sporadic bluish nodules on his skin involving his head, neck, thorax, abdomen, and planta pedis.
Diagnoses:
BRBNS with the complication of intussusception.
Interventions:
An emergency laparotomy was performed, and postoperative management included blood transfusions and oral iron supplementation for 2 weeks.
Outcomes:
The patient's postoperative course of hospitalization was uneventful. During the 4-month follow-up, the patient showed no signs of intussusception recurrence.
Lessons:
Patients diagnosed with BRBNS who present with acute abdominal pain and distension should raise suspicion for the presence of intussusception, which requires emergent surgical intervention.
... (1, 2) Las MV pueden desarrollarse desde la boca hasta el ano y por lo general están localizadas en el intestino delgado (ID), teniendo mayor relevancia clínica por el riesgo de sangrado masivo que puede generar, (3) Texeira MG, et al. (10) , coinciden pues el ID fue el lugar donde mayor número de MV se encontraron, en su reporte de caso. A diferencia del nuestro, la localización mayoritaria fue en colon con predominio en recto, coincidiendo con el trabajo de Martínez CA, et al. (9) por esta razón consideramos que el diagnóstico inicial de trombosis colónica fue erróneo, probablemente por la observación de MV que dio a la mucosa del colon un aspecto de trombosis. ...
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
... Эпидемиология. Достоверная эпидемиология BRBNS неизвестна, однако есть данные, что этот синдром выявляют с частотой 1 на 14 000 новорожденных [7]. В англоязычной литературе описано около 200 случаев данного заболевания. ...
Blue rubber bleb nevus syndrome (BRBNS) also called Bean's syndrome is a rare disorder characterized by mucocutaneous angiomatose multiple cutaneous venous malformations. Pathogenesis of the BRBNS is caused by the somatic mutations in angiopoietin receptor gene TEK. These mutations cause ligand-independent activation of the tyrosine kinase receptor and the PI3K / AKT pathway and involve the mTOR in the pathological process in a specific way. There are no universally effective methods for treating systemic forms of vascular malformations currently. However, recent numerous reports have shown the advantages of rapamycin, an mTOR inhibitor, as a well-tolerated and effective therapy in patients with vascular abnormalities, in particular with diffuse angiomatose. This article presents a clinical case of a 5-years old patient with a diagnosis of iron deficiency anemia, who has been treated for a long time and received iron supplements therapy without achieving any effect. The diagnosis of Bean's syndrome was established after 5 years from the first clinical manifestation and based on clinical, laboratory and instrumental methods. The cause of iron deficiency anemia was established. It was repeated chronic bleedings from multiple sites of the gastrointestinal mucosa vessels. Prescribed rapamycin therapy allowed to contain gastrointestinal bleeding, to reduce the size of vascular lesions and to prevent the formation of new ones. Parents gave their consent to use information about the child in the article.
... Blue rubber bleb nevus syndrome (BRBNS) is a rare condition, characterized by multiple venous malformations (VMs) of the skin and gastrointestinal (GI) tract [1,2]. The GI lesions could cause abundant bleeding and lead to severe anemia. ...
... BRBNS is a rare disease characterized by multiple VMs in the skin and the GI tract [1,2]. The characteristic cutaneous lesions consist of deep blue, rubbery blebs, which are easily compressible. ...
... Conservative treatment by oral iron supplementation or blood transfusion is usually sufficient. Pharmacologic treatment to control GI bleeding with agents such as corticosteroids, interferon-, and -blocker has been attempted [1,13,14], but there is no convincing evidence of durable beneficial effects of any drug treatment. Recently, the mammalian target of rapamycin (mTOR) inhibitor sirolimus has been reported to be effective in reducing VMs related to BRBNS [13,14]. ...
Blue rubber bleb nevus syndrome (BRBNS) is a rare disease in which venous malformations (VMs) involve any body organ, most commonly the skin and the gastrointestinal (GI) tract. Treatment of BRBNS aims at preserving the GI tract as much as possible. Although there are several dozen case reports about BRBNS that describe short-term clinical courses, a few provide an account of long-term clinical course. Here, we report a case of BRBNS in a girl that required multiple abdominal surgeries due to the GI VMs and a recurrence at an interval of 14 years. The preferred approach for gastrointestinal VMs involves the complete resection of all lesions without residual VMs. It is important to bear in mind the possibility of delayed recurrence of GI VMs after surgical or endoscopic treatment.
