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 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Blue Rubber Bleb Nevus syndrome is a rare disease characterized by a distinctive type of hemangioma which involves the skin and the gastrointestinal tract. In the latter location, these lesions are often responsible for chronic blood loss and secondary anemia, and in rare situations may act as a leading point for an intussusception. The diagnosis of intussusception in children older than 3 or 4 yr is frequently difficult and delayed. In a child with typical skin lesions of the Blue Rubber Bleb Nevus syndrome, an acute illness with manifestations of intestinal obstruction should indicate the possibility of an associated intussusception.
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PMID:Blue Rubber Bleb Nevi as a cause of intussusception. 683 29

Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable.
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PMID:Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome. 1510 76

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by venous malformations usually affecting the skin and the gastrointestinal tract. These skin haemangiomas are present at birth and deteriorate as the body grows, causing primarily cosmetic problems. The haemangiomas of the gastrointestinal tract may appear later in life and may bleed, causing chronic anaemia, or may present with severe complications such as rupture, intestinal torsion, and intussusception. Other organs may also be involved. This article describes a 13-year-old boy with multiple haemangiomas of the skin, the mucous membranes, and the gastrointestinal tract, which caused anaemia and ileoileic intussusception. In this patient, the nervous system was significantly affected with a haemangioma of the left occipital lobe, with complications of stroke. He also had multiple paravertebral heamangiomas, which caused pressure signs and symptoms. This boy suffered from complex partial and generalized seizures and cerebral palsy. Multiple skeletal anomalies were also present from birth. In the relevant literature, this is the first case of BRBNS with simultaneous neurological and skeletal involvement. Such cases should be recognized early, as they can lead to serious multiple health problems and handicaps.
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PMID:Blue rubber bleb nevus syndrome with simultaneous neurological and skeletal involvement. 1793 57

Blue Rubber Bleb Nevus Syndrome (BRBNS) is an uncommon congenital disorder characterized by sporadic venous malformation which mainly occurs in skin and alimentary canal. Here, we report a BRBNS patient with concomitant intestinal intussusception who diagnosed by intraoperative endoscopy and ultimately managed using surgical resection. A 19-year-old boy was referred to urgent surgery for acute melena and stomachache. He had used to be a long-term iron user for undiagnosed chronic anemia and papules. Abdominal CT on admission demonstrated the presence of intestinal intussusception. The following exploratory laparotomy and intraoperative endoscopy revealed multiple gastrointestinal hemangiomas. The postoperative course was uneventful and pathological examination certified multiple cavernous hemangiomas in the resected gastrointestines.
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PMID:Blue rubber bleb nevus syndrome coexisted with intestinal intussusception: a case report. 2523 9

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The lesions often involve the cutaneous and gastrointestinal systems. Other organs can also be involved, such as the central nervous system, liver, and muscles. The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia. The syndrome may also present with severe complications such as rupture, intestinal torsion, and intussusception, and can even cause death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy, such as iron supplementation and blood transfusion. For more significant hemorrhages or severe complications, surgical resection, endoscopic sclerosis, and laser photocoagulation have been proposed. Here we present a case of BRBNS in a 45-year-old woman involving 16 sites including the scalp, eyelid, orbit, lip, tongue, face, back, upper and lower limbs, buttocks, root of neck, clavicle area, superior mediastinum, glottis, esophagus, colon, and anus, with secondary severe anemia. In addition, we summarize the epidemiology, clinical manifestations, diagnosis, differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.
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PMID:Blue rubber bleb nevus syndrome: a case report and literature review. 2549 43

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterised by venous malformations in the skin, gastrointestinal tract and other parts of the body. Its presentation is usually sporadic, although cases of autosomal dominant inheritance have been reported. Usually seen in children, BRBNS presentation in adults is rare. Symptoms at presentation depend on the organs involved; patients with BRBNS may present with acute or chronic gastrointestinal bleed. We herein report a rare presentation of BRBNS in an adult who suffered from intermittent abdominal pain and melaena for three years. Contrast-enhanced computed tomography revealed a jejunojejunal intussusception with a vascular malformation as the lead point. The patient underwent laparotomy with resection of the intussuscepted bowel segment. Recovery was uneventful. In spite of a wide range of therapeutic options for the management of BRBNS described in the literature, the efficacy of those available therapies, including surgical excision, is not well established.
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PMID:Blue rubber bleb nevus syndrome: a rare cause of chronic gastrointestinal bleed in adults. 2563 79

Blue rubber bleb nevus syndrome (BRBNS) is a congenital disorder with characteristic venous anomalies that can present with varying degree of blood loss. The most clinically significant symptoms in adults include gastrointestinal (GI) bleeding and iron deficiency anemia. Severe complications can include intestinal torsion, intussusception, and even perforation, with each leading to significant morbidity and mortality. This report serves to give a brief understanding of this rare disease along with current diagnostic and therapeutic options.
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PMID:Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations. 2690 80

We report the anesthetic management of a pediatric case of blue rubber bleb nevi syndrome combined with small-intestinal intussusception. A 2-year-old girl was transferred to our hospital for small-intestinal intussusception. Emergent ablation of the upper gastrointestinal tract nevus under general anesthesia was planned. Given the presence of several nevi in the oral and pharyngeal space, we utilized the McGRATH MAC (McGRATH; Aircraft Medical Ltd, United Kingdom) laryngoscope for gentle and stress-free tracheal intubation. The venous line was kept patent preoperatively, and rapid-sequence intubation was performed with the McGRATH (size 2 pediatric blade). A 4.5-mm tracheal tube was inserted uneventfully under direct visualization. The trachea was observed and the tube maintained in a proper position with a bronchofiberscope. During the procedure, cuff volume was regulated to avoid excessive increase by upper gastrointestinal endoscope insertion. The girl was extubated in the operating room and showed no postoperative complications such as hemorrhage or hoarseness.
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PMID:[Anesthetic Management of a Pediatric Case of Blue Rubber Bleb Nevi Syndrome Combined with Small-intestinal Intussusception]. 2718 12