Blue Rubber Bleb Naevus Syndrome Research Articles

PA23 Glomuvenous malformation or blue rubber bleb naevus syndrome: a case highlighting how a genetic diagnosis can avoid invasive testing and the need for long-term follow-up

PA23 Glomuvenous malformation or blue rubber bleb naevus syndrome: a case highlighting how a genetic diagnosis can avoid invasive testing and the need for long-term follow-up

Diagnostic approach to hepatic vascular lesions: a paediatric perspective.

The pathological evaluation of hepatic vascular lesions in children requires special consideration. Inconsistent terminology, rarity of pathology specimens and overlapping pathological features between various lesions may pose a serious diagnostic challenge. In this review, we highlight the importance of using the International Society for the Study of Vascular Anomalies (ISSVA) classification scheme to characterise these lesions. Selected entities are discussed, including hepatic vascular tumours exclusively seen in the paediatric age group, hepatic infantile haemangioma and hepatic congenital haemangioma. Vascular malformations, with emphasis on their syndromic associations (venous malformation in blue rubber bleb naevus syndrome) and complications (hepatocellular nodules in Abernethy malformation) are also covered.

Blue rubber bleb naevus syndrome: a rare presentation of vascular disorder

Blue rubber bleb naevus syndrome (BRBNS) is a rare syndrome of AV malformation which mainly involves skin, soft tissue, gastrointestinal tract and other parts of the body. Its occurrence is usually sporadic, although cases of autosomal dominant inheritance is reported. At presentation symptoms depend on the organs involved. Patients may present with acute or chronic gastrointestinal bleed and it usually seen in children and rarely in adults. We herein reported a rare case of BRBNS in 17 years old male patient who suffered from Malena for four years with past history of haemangioma excision on back. Patient was on regular blood transfusion for six months. Endoscopy revealed multiple AV malformation in gastrointestinal tract. Patient underwent laparotomy with resection of involved segments of ileum with primary end to end anastomosis. Post-operative recovery was uneventful. So here we can conclude that the definitive management of BRBNS affecting the gastrointestinal tract is excision. This article was an original case review of management of BRBNS. The clinical presentation, required investigations and management of the same.

DP09: Blue rubber bleb naevus syndrome: an unusual case of a vascular anomaly presenting with a cutaneous manifestation and underlying gastrointestinal bleeding

DP09: Blue rubber bleb naevus syndrome: an unusual case of a vascular anomaly presenting with a cutaneous manifestation and underlying gastrointestinal bleeding

Perforation following enteroscopic treatment of blue rubber bleb naevus syndrome.

Perforation following enteroscopic treatment of blue rubber bleb naevus syndrome.

Sirolimus in blue rubber bleb naevus syndrome: A systematic review.

The aim of this study is to review sirolimus as a treatment for blue rubber bleb naevus syndrome (BRBNS). A literature search of Medline, Embase, CINAHL, SCOPUS and Google Scholar was conducted for publications reporting treatment of patients with BRBNS with sirolimus. Of 46 articles identified, 17 studies reporting 23 patients met inclusion criteria. Sirolimus was well tolerated in all but one patient who required treatment cessation; 17/18 patients noted an improvement in gastrointestinal disease where this was reported; 21/22 patients noted an improvement in cutaneous disease where this was reported. Based on these results, sirolimus may be considered a first-line treatment of BRBNS depending on patient morbidity.

Multiple enchondromas and skin angiomas: Maffucci syndrome

A 52-year-old man presented to our dermatology clinic for evaluation of several bluish nodules of the right hand and wrist (fi gure) that had gradually increased in number over the previous 31 years. The lesions were asymptomatic but had been causing the patient embarrassment and had started aff ecting his social interactions. No one in his family had a history of similar lesions. During adolescence he had had surgical excision of several painful enchondromas involving the proximal phalanx of the right fi fth fi nger and three chondrosarcomas of the metacarpo-phalangeal joints of the right hand, but at the time he had no evidence of cutaneous lesions and therefore had been diagnosed as having Ollier disease (enchondromatosis). On examination he had several hard, painless, compressible, angiomatous, subcutaneous nodules on the fi ngers of the right hand, consistent with a diagnosis of enchondromas, which was confi rmed on radiography (fi gure). Histology of one of the skin lesions showed typical features of cavernous haemangioma—ie, large blood-fi lled spaces lined by tumour endothelial cells separated by fi brous tissue. Human herpesvirus type 8 and D2-40 immunohistochemical stains were negative. On the basis of clinical and histological fi ndings we made a diagnosis of Maff ucci syndrome. We referred the patient to our plastic surgery department for excision of the largest angiomas, and he has follow-up every 6 months to assess new or changing lesions and check for possible chondrosarcomas. Maff ucci syndrome is a rare, sporadic genodermatosis aff ecting both males and females, which is associated with postzygotic somatic mutations in isocitrate dehydrogenase 1 and 2 genes. Although cases of late-onset Maff ucci syndrome have been reported, it usually manifests around age 4–5 years, aff ecting the hands or feet in a unilateral or asymmetrical fashion. Clinically, it is characterised by the combination of benign enlargements of cartilage (enchondromas) and multiple angiomatous skin lesions— usually cavernous haemangiomas, but patients can also present with lymphangiomas and spindle cell haemangioendotheliomas. Treatment is usually necessary only for aesthetic or functional problems. Surgery is the most common therapeutic approach for both cartilaginous and cutaneous lesions. Possible complications include spontaneous fractures, malignant transformation of angiomatous lesions, and sarcomatous degeneration of enchondromas—with a lifetime risk of about 100%. Prompt identifi cation of Maff ucci syndrome can help to identify and treat possible chondrosarcomas in a timely fashion. The principal diff erential diagnoses are KlippelTrenaunay syndrome, Kaposi sarcoma, glomuvenous malformations, Proteus syndrome, blue rubber bleb naevus syndrome, and Ollier disease, which is frequently confused with Maff ucci syndrome. Ollier disease does not present with angiomatous lesions but only enchondromas, which have a much lower risk of malignant transformation (about 25% of cases) compared with patients who have Maff ucci syndrome.

Sirolimus is a Successful Treatment for Recurrent Iron Deficiency Anaemia in Blue Rubber Bleb Naevus Syndrome

Sirolimus is a Successful Treatment for Recurrent Iron Deficiency Anaemia in Blue Rubber Bleb Naevus Syndrome

Plaque-type glomuvenous malformations in a child

In July, 2014, a healthy 1-month-old boy attended for evaluation of lesions on his back that had been present since birth. He had no relevant family history. On examination he had pink plaques on his back with central bluish colouration and depression and some prominent ectatic vessels, surrounded by a dusky halo (fi gure). The plaques were soft, poorly compressible, painless, and more prominent during crying. Musculoskeletal examination was normal, as were blood count, liver enzymes, renal function, and coagulation. The plaques were consistent with a vascular malformation. In infancy, such diff use skin lesions usually result from venous malformations. Common venous malformations usually aff ect the muscles and joints of the lower limbs, head, and neck. Blue rubber bleb naevus syndrome usually aff ects the upper limbs and trunk and is associated with gastrointestinal lesions. Glomuvenous malformations aff ect the limbs and back, with no extracutaneous involvement. Unlike common venous malformations and blue rubber bleb naevus, glomuvenous malformations have a hyperkeratotic cobblestone-like appearance, are not completely emptied by compression, and tend to become painful. Total body MRI showed several varicosities in the subcutaneous tissue of the back but no extracutaneous lesion. The diagnosis of glomuvenous malformation was confi rmed by examination of a biopsy sample, which showed dilated and irregular vascular channels lined by layers of glomus cells that stained positively for smooth muscle α-actin (fi gure). Laser therapy at 6 months old greatly reduced the lesions in size and colour. At last follow-up in March, 2015, the baby was well and had no new lesions. Plaque-type glomuvenous malformation can be sporadic or familial. Relatives of the aff ected individual often have minor lesions, such as one small nodule. The plaques usually appear during the fi rst month of life, grow rapidly, and enlarge to involve adjacent areas, although new lesions can present at diff erent sites during development or after trauma in previously unaff ected areas. Plaque-type glomuvenous malformations are limited to the skin, but can be a cause of concern to parents and are often a diagnostic challenge for physicians.

Sirolimus Is a Successful Treatment for Recurrent Iron Deficiency Anaemia in Blue Rubber Bleb Naevus Syndrome

Sirolimus Is a Successful Treatment for Recurrent Iron Deficiency Anaemia in Blue Rubber Bleb Naevus Syndrome

Chapter 16 - Blue bleb rubber nevus syndrome

Vascular malformations are errors of development of vessels that occur during embryogenesis. They are rheologically divided into slow-flow (capillary, lymphatic, venous and combined) and fast-flow (arterial, arteriovenous, and combined) malformations. These congenital lesions grow proportionally with the patient and never spontaneously regress. Venous malformations (VM) are composed of ectatic venous-like channels. They are mainly sporadic but can be inherited as an autosomal pattern. Any tissue and organ can be affected. They can be isolated or part of syndromes. Blue rubber bleb naevus syndrome is characterized by multifocal rubbery cutaneous venous malformations, especially on palm and sole, that are associated with multiple gastrointestinal VM. Localized intravascular coagulopathy, with high D-dimer level and normal-to-low fibrinogen level, is commonly seen. As cerebral VM can also occur in this syndrome, brain MRI should be part of the screening of patients affected with BRBN. Management is often multidisciplinary and can include medical, interventional radiological and/or surgical treatment.

Blue rubber bleb naevus syndrome - presentation in the head and neck region: a case report

Introduction: Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular malformation condition normally present from birth or early childhood. It mainly affects the skin and gastrointestinal (GI) tract, presenting as bluish cutaneous swellings or GI bleeding. There are very few reported cutaneous cases in the head and neck region. Poster presentations for BAOMS Annual Scientific Meeting 2-4 July 2014, Edinburgh International Conference Centre, ScotlandBritish Journal of Oral and Maxillofacial SurgeryVol. 52Issue 8Preview Full-Text PDF

Rarities in neurology: blue rubber bleb naevus syndrome

A 62-year-old woman presented with stabbing pain over her left temple radiating to her left cheek when bending forwards or coughing. Neurological examination was normal. There were many cutaneous venous...

Successful treatment of cutaneous venous malformations in a patient with blue rubber bleb naevus syndrome by Nd:YAG laser

Successful treatment of cutaneous venous malformations in a patient with blue rubber bleb naevus syndrome by Nd:YAG laser

Blue rubber bleb naevus syndrome and chiari malformation: high risk of peroperative haemorrhage.

Blue rubber bleb naevus syndrome is an uncommon disorder whereby patients possess cutaneous vascular malformations. Cranial malformations have been rarely reported in the literature. We report the first ever case of a patient with blue rubber bleb naevus syndrome (BRBNS), who was found to have a symptomatic Chiari malformation and prominent subcutaneous vascular malformations in communication with the intracranial venous sinuses. In our case, a routine operation for Chiari malformation was complicated by significant blood loss. The operative hazards are presented along with suggested peri-operative management strategies when carrying out neurosurgical operations on patients with BRBNS. A brief literature review is included.

Use of Laparoscope as Rigid Enteroscope in Blue Rubber Bleb Naevus Syndrome

Management of bleeding multiple haemangiomata within the gastrointestinal tract is a surgical challenge in this case of Blue Rubber Bleb Naevus Syndrome (BRBNS). Described is a novel use of the laparoscope as a rigid enteroscope in order to provide intraluminal imaging for successful lesional resection from small bowel.

Spiral enteroscopy: findings, tolerability and safety in a single UK centre

IntroductionSpiral enteroscopy (SE) is an emerging technique for the evaluation and management of small bowel pathology. There is no published data concerning tolerability and safety of this technique under sedation...

Tu1616 The Findings, Tolerability and Safety of Spiral Enteroscopy in a Single UK Centre

Tu1616 The Findings, Tolerability and Safety of Spiral Enteroscopy in a Single UK Centre Elizabeth A. Arthurs, Peter Marden, Stephen Hughes Gastroenterology, North Bristol NHS Trust, Bristol, United Kingdom Background: Spiral enteroscopy (SE) is an emerging technique for the evaluation and management of small bowel lesions. There is no published data concerning tolerability and safety of this technique under sedation in the UK. Aims: To report our single centre experience of the tolerability, safety and efficacy of SE in the investigation and management of small bowel pathology. Methods: A retrospective analysis of case notes of patients undergoing SE (March 2009 to November 2010) was performed. Patient demographics, indications, findings, treatment performed, tolerability and complications were analysed. Results: We performed 47 procedures in 43 patients. Forty five SEs were performed per oral and 2 per anum. Thirty patients were male and 17 female. Mean age was 68.8 (range 35 90). Indications for SE were anaemia (17), angiodysplasia (12), occult GI bleeding (7), polyps (5), upper GI bleeding/melaena (3), abnormal radiology (1), pain (1) and Peutz-Jegher syndrome (1). All procedures were performed under conscious sedation. Mean estimated depth of insertion in 39 patients was 212 cm (range 100 300 cm) per oral. Mean time for the procedure in 41 patients was 40 mins (range 15 80). Abnormalities were identified in 30 (63.8%) cases; these comprised angiodysplasia (22), small bowel diverticula (3), polyps (2), ulceration (2), lymphoma (1), Blue Rubber Bleb Naevus syndrome (1), presence of altered blood (1), lymphangiectases (2) and upper gastrointestinal pathology (GAVE, hiatus hernia, Barrett’s oesophagus). Seven patients had more than one abnormality. Therapy was performed in 24 cases (51.2%) and comprised APC (21), tattooing (8), multiple polypectomies (1), and dual therapy with injection of adrenaline and clipping/APC (2). Tolerance was recorded by the endoscopist and nursing staff as ‘good’, ‘fair’ or ‘poor’. Tolerance was recorded as ‘good’ in 34 (72.3%) cases, ‘fair’ in 8 (17%) cases and ‘poor’ in 5 (10.6%) cases. 1 patient suffered a complication mild hypotension and hypoxia which resolved with intravenous fluids and oxygen. There was 1 death within 30 days: a patient with ischaemic heart disease and cardiac failure (not procedure related). The main limitations of this technique were failure of the spiral to engage the small intestine adequately (3), impaction of the spiral in a large hiatus hernia (1) and in 1 patient SE did not visualise a tattoo placed previously at double balloon enteroscopy. Conclusions: In our experience, spiral enteroscopy appears to be a safe and effective way of diagnosing and treating small bowel pathology. It is safe to perform under conscious sedation and well tolerated in most patients.

The value of double balloon enteroscopy in diagnosing blue rubber bleb naevus syndrome: a case report

Blue rubber bleb naevus syndrome is a rare vascular disorder associated with multiple gastrointestinal haemangiomas that have the potential for life-threatening haemorrhage. These may be difficult to diagnose, and have classically been described using computed tomographic studies and/or mesenteric angiography. Resected surgical specimens of these lesions, especially in the small bowel, have often been extensive and poorly localized. The recent advent and progressive development of double balloon enteroscopy has allowed the direct visualization and marking of these enteric lesions and serves as a valuable adjunct not only in diagnosis but also planning prior to surgery to allow accurate estimate of the extent of resection.

Blue rubber bleb naevus syndrome: A rare cause of gastrointestinal bleeding in an African child

Blue rubber bleb naevus syndrome (BRBNS) is characterised by vascular malformations of the skin and gastrointestinal tract. We present the rare case of BRBNS in an African child. She presented with large-volume gastrointestinal bleeding and was managed by on-table colonoscopic identification and surgical excision, of all her enteric, vascular malformations.