The name blue rubber bleb nevus syndrome is derived from the rubber-like consistency on palpation of the cutaneous lesions. They present as dark blue compressible papules that may or may not be painful [1] and measure from millimeters to centimeters in diameter. These cutaneous nevi do not bleed spontaneously but are fragile and may be flat, elevated or pedunculated.

Patients have nonspecific complaints like asthenia caused by chronic hemorrhage due to acute blood loss following hematemesis, rectal bleeding or melena, hemoptysis, hematuria, epistaxis or nasal bleeding [2] or signs of hemothorax or hemopericardium. Occipital lobe bleeding associated with blue rubber nevus syndrome has been described, leading to blindness [3]. Similar lesions may be encountered in any [4] type of tissue: glandular, muscular, genital, bone, heart, lung, renal, pericardium and peritoneum [5] [6].

Nevi are usually present and diagnosed at birth and have a natural tendency to grow and multiply or even invade neighboring structures as the child grows older, but malignant transformation has not been reported yet. Nevi located close to bones may cause bowing deformity, while those in the neighborhood of joints may lead to hemarthrosis and affect joint mechanics. Their histological nature, consisting of dysplastic veins with abnormal walls may cause consumption coagulopathy that exacerbates blood loss.

• Anemia

  Blue Rubber Bleb Nevus Syndrome ( BRBNS) is a rare disorder characterized by multiple cutaneous venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. [pathopedia-india.com]

  During the one-year follow-up she has not presented with bleeding or anemia. [revistagastroenterologiamexico.org]

  Anemia is common among individuals with BRBNS. Because blood volume is at a low level, the amount of oxygen being delivered to the skin and tissues is depleted. [syndrome.org]

  The treatment for most patients is clinical and consists of controlling the anemia via constant iron replenishment and blood transfusions in patients with severe anemia. [hindawi.com]

  Patients may exhibit dyspnea caused by severe anemia or recurrent thromboembolism and pulmonary hypertension or cyanosis induced by pulmonary stenosis. [symptoma.com]

• Soft Tissue Mass

  He presented with a rubber-like soft-tissue mass in the left knee and the right side of the neck, recurrent pain, and fixed flexion contracture of the knee. [ncbi.nlm.nih.gov]

  Soft tissue masses not specific for hemangiomas can be revealed by CT scans. Selective arteriography and scintillography are useful in cases of active bleeding. In our case, the massive bleeding indicated surgical treatment. [scielo.br]

  Physical examination indicated that the blue-black rubber-like soft-tissue masses ranging from 5 mm to 5 cm were on the neck, upper and lower limbs, chest walls, and back (Fig. 1 a). [karger.com]

  On the contrast-enhanced CT images, the lesions were demonstrated by the thickening of bowel wall, nodular or irregular elevated lesions, soft-tissue masses, and enhancement in venous phase. [journals.lww.com]

• Pallor

  CASE REPORT A 45-year-old female patient was admitted because of pallor and fatigue. She was born with grain of rice-sized cutaneous bluish nodules on her left eyelid. [doi.org]

  […] gastrointestinal lesions is determined by the extent of involvement and severity of the disease.We are presenting a case of BRBNS who was admitted in the paediatric ward of Bangabandhu Sheikh Mujib Medical University(BSMMU) with the complaints of progressive pallor [banglajol.info]

  Five years ago, she suffered from pallor and fatigue and attended a local hospital where a diagnosis of angioma and iron deficiency anemia (IDA) was made. [ncbi.nlm.nih.gov]

  The pallor prompted the clinician to perform endoscopic examination which showed multiple, congested, small nodular lesions in the stomach, duodenum and jejunum. A biopsy of abdominal wall lesion showed a mass 1.5 X 1.5 cm with a brown cut surface. [ijpmonline.org]

• Malnutrition

  In addition, she has iron-deficiency anemia, nephrolithiasis, major depression, and malnutrition despite vitamin and caloric supplements. [academic.oup.com]

  […] multiple resectional surgeries (partial gastrectomy, partial small bowel resection, total abdominal colectomy and end ileostomy) resulted in significant long-term complications, including iron-deficiency anemia, nephrolithiasis, major depression and malnutrition [spandidos-publications.com]

• Melena

  A diagnostic search for a clinical condition presenting with vascular lesions of skin and oral mucosa, iron deficiency anemia, history of melena, ventricular hypertrophy and low flow lesions on ultrasound confirmed the case to be BRBNS. [ijdvl.com]

  Patients have nonspecific complaints like asthenia caused by chronic hemorrhage due to acute blood loss following hematemesis, rectal bleeding or melena, hemoptysis, hematuria, epistaxis or nasal bleeding or signs of hemothorax or hemopericardium. [symptoma.com]

  We report here a child with chronic iron deficiency anaemia, melena and skin lesions. She had severe hypochromic microcytic anaemia. [ncbi.nlm.nih.gov]

• Intestinal Disease

  This test also may help doctors distinguish between IBS and IBD (inflammatory bowel disease), a very different type of intestinal disease that may involve the immune system. [emedicinehealth.com]

• Dyspepsia

  […] veins” opening into large pouches, forming true erectile tissue, and that many of the pouches were filled with phleboliths. 1930 – McClure and Ellis recorded longstanding “blood tumors” scattered over the skin of a 30-year old woman who had anaemia, dyspepsia [litfl.com]

• Vascular Disease

  Abstract Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. [ncbi.nlm.nih.gov]

  主要主题词： Esophagus; Gastrointestinal Neoplasms; Nevus, Blue; Skin Neoplasms; Vascular Diseases [paper.medlive.cn]

  The management of ophthalmic involvement in blue rubber bleb nevus syndrome Case Report Abstract Objective: Blue rubber bleb nevus syndrome is a rare vascular disease most commonly associated with venous malformations of the skin and the gastrointestinal [egms.de]

• Macula

  Fig 3: Elevated choroidal lesion beneath the macula OD. [healio.com]

  Rapamicinatopica al 0,2% para el tratamiento de angiofibromas faciales y maculas hipomelanoticas en la esclerosis tuberosa. Actas Dermosifiliogr, (2013), [7] D.N. Franz, J. Leonard, C. Tudor, G. Chuck, M. Care, G. Sethuraman, et al. [actasdermo.org]

  Technetium Tc-99m-labeled red blood cell imaging may help localize the source and extent of blood loss.[19] Blue rubber bleb nevi can be examined under dermoscopy with features of superficial, light red arborizing veins, maculae with undefined borders [statpearls.com]

• Skin Rash

  Showing of 25 | 80%-99% of people have these symptoms Arteriovenous malformation 0100026 Bone pain 0002653 Cavernous hemangioma Collection of dilated blood vessels that forms mass 0001048 Prolonged bleeding time 0003010 Skin rash 0000988 Visceral angiomatosis [rarediseases.info.nih.gov]

• Skin Disease

  Subclass of hereditary cancers, genetic skin vascular disorder, vascular skin disease, rare genetic venous malformation Authority control Q885574 Reasonator Scholia Statistics Media in category "Blue rubber bleb nevus syndrome" The following 3 files [commons.wikimedia.org]

  Congenital diseases of the skin. [pascal-francis.inist.fr]

  Resources Nevus Network PO Box 305 West Salem, NC 44287 USA Tel: (419)853-4525 Fax: (405)377-3403 Email: [email protected] Internet: http://www.nevusnetwork.org/ NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases Information [metrohealth.net]

• Thin Skin

  Another variety is the blood sac, looking like a blue rubber nipple covered with a milk white tissue of thin skin. These can be emptied of much or all of their contained blood. [litfl.com]

• Epistaxis

  Patients have nonspecific complaints like asthenia caused by chronic hemorrhage due to acute blood loss following hematemesis, rectal bleeding or melena, hemoptysis, hematuria, epistaxis or nasal bleeding or signs of hemothorax or hemopericardium. [symptoma.com]

  There was no history of epistaxis, hematemesis, haemoptysis, melena, haematuria, menorrhagia, dyspnoea, seizures or headache. Bony or visual defects were absent. [e-ijd.org]

  Differential diagnosis included hereditary hemorrhagic telangiectasia (punctiform—typically subungual—angioma, epistaxis, and affected first-degree relative) and Maffucci syndrome (presence of enchondromatosis). [n.neurology.org]

Clinical examination may reveal signs of chronic or acute posthemorrhagic anemia or of other complications like volvulus, bowel infarction or intussusception. Mobility may be impaired due to the extension of the lesion inside the joint [7] or due to spinal cord compression [8]. Patients may exhibit dyspnea caused by severe anemia or recurrent thromboembolism and pulmonary hypertension [9] or cyanosis induced by pulmonary stenosis [10].

Workup should include a complete blood count, serum iron levels, a stool sample for occult blood and a urine sample that may detect hematuria.

Skeletal and articular involvement is diagnosed using simple X-rays and may include focal lytic defects or cortical remodeling [11]. The extent of gastrointestinal lesions is best evaluated using superior digestive endoscopy or colonoscopy, while magnetic resonance imaging [12], computer tomography [13] and Technetium-99 scintigraphy [14] detect extracutaneous lesions and bleeding. Magnetic resonance imaging is especially useful in diagnosing liver, spleen and pancreatic lesions, while capsule endoscopy is emerging as an alternative to evaluate gastrointestinal nevi [15]. This is particularly useful since barium studies, the cheaper and more widely accessible alternative only shows polypoid structures and is unable to differentiate between polyps and nevi, creating confusion.

Visceral angiography is not usually indicated, unless performed for other reasons in the same area, despite the fact that it might offer valuable information during the venous phase.

If the extent of the disease is not easily appreciated using noninvasive measures, an exploratory laparoscopy should be performed, especially since this could limit the area of the small bowel to be resected.

"Diagnosis and treatment of blue rubber bleb nevus syndrome in children". World Journal of Pediatrics. 4 (1): 70–3. doi:10.1007/s12519-008-0015-9. PMID 18402258. S2CID 42702922. Further reading[edit] Bean WB (1958). [en.wikipedia.org]

Few ophthalmic cases have been reported to date, and no clear treatment regimen exists. We describe the case of a 59-year-old man, along with a review of literature, to help in the future diagnosis and treatment of patients with the disease. [egms.de]

NOVA does not endorse any particular physician, treating facility or treatment protocol. [novanews.org]

The dose and length of treatment with these agents has not been well defined and lesions may return to their pretreatment size after discontinuation of treatment. In the absence of GI bleeding, conservative treatment should suffice. [dermatologyadvisor.com]

He is advised sclerotherapy and carbon dioxide LASER treatment. [ijdvl.com]

The sclerosant agents used are 5% sodium morrhuate, quinine urethrone, 5% ethanolamine oleate [EO], 1% pilidocanol and hypertonic saline.[3],[12] The prognosis depends on the extent of visceral organ involvement. [ijdvl.com]

Rarely, CNS involvement can be fatal. [11] The prognosis for blue rubber bleb nevus syndrome (BRBNS) depends on the extent of visceral organ involvement and complications related to the degree of symptoms. [emedicine.medscape.com]

Etiology Underlying etiology is not known. BRBNS appears to be a sporadic event (although a small number of autosomal dominant cases has been reported). [dermatologyadvisor.com]

The etiology of blue rubber bleb nevus syndrome (BRBNS) remains unknown. [5] The literature suggests that this condition occurs sporadically. [5, 6] A few reported cases have been associated with an autosomal dominant inheritance pattern, for which a [emedicine.medscape.com]

In addition, we review the available literature on the epidemiology, clinical features, associated conditions, diagnosis and treatment. [ncbi.nlm.nih.gov]

A world wide website was established to determine the epidemiology, natural history, and clinical aspects of BRBNS. Results: 35 individuals with the diagnosis of BRBNS responded to the website. Only 20 fulfilled the definition of BRBNS. [nature.com]

Even though the disease appears sporadically in the majority of reported cases, some have a dominant autosomal component related to a mutation of chromosome 9p.3 The epidemiology and natural history of BRBNS is not well known. [revistagastroenterologiamexico.org]

The detailed clinical, endoscopical and histopathological description is given as a wide range of differential diagnosis of vascular lesions based on pathophysiology and updated classification of vascular lesions. [termedia.pl]

Experimental cell research. 2006 Mar 10 [PubMed PMID: 16225862] [13] Limaye N,Boon LM,Vikkula M, From germline towards somatic mutations in the pathophysiology of vascular anomalies. [statpearls.com]

From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet. 2009 Apr 15;18(R1):R65-74. [PMC free article: PMC2657941] [PubMed: 19297403] 14. [ncbi.nlm.nih.gov]

The patient was treated with octreotide to prevent rebleeding. During the 12 months of treatment he had no gastrointestinal bleeding episodes or anaemia. Then repeat capsule endoscopy showed that the small bowel vascular lesions were unchanged. [ncbi.nlm.nih.gov]

Long-term efficacy of octreotide in the prevention of recurrent bleeding from gastrointestinal angiodysplasia. Am J Gastroenterol 2007;102:254-60. [ijdvl.com]

Current medical research has not established a way of preventing Blue Rubber Bleb Nevus Syndrome If there is a family history of BRBNS, then genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing [dovemed.com]

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