Blue rubber bleb nevus syndrome, sometimes called Bean syndrome, is a rare condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). Explore symptoms and treatment.
blue rubber bleb nevus syndrome
Image by Mohammad2018/Wikimedia
Summary
BRNSCase-36
Image by Herbert L. Fred, MD and Hendrik A. van Dijk/Wikimedia
BRNSCase-36
Blue rubber-bleb nevus syndrome A rare, sometimes familial, disorder characterized
by a variety of cutaneous vascular malformations in association with visceral
hemangiomas.
Image by Herbert L. Fred, MD and Hendrik A. van Dijk/Wikimedia
What Is Blue Rubber Bleb Nevus Syndrome?
do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person. Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis). Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. Other symptoms vary depending on the organ affected. Treatment is tailored to the individual depending on the location and symptoms caused by the affected areas.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (1)
blue rubber bleb nevus syndrome
Blue rubber bleb naevus (BRBNS) is a rare vascular malformation of particularly cutaneous and visceral lesions that often results in severe and potentially fatal bleeding and anemia. To date, more than 200 cases have been reported, but their prevalence is unknown. Multifocal venous malformations are made most often in the skin and in the gastrointestinal tract (GIT), but also in the brain, kidneys, lungs, eyes, bones and our other organs. Coagulation disorders (consumption-related coagulopathy, thrombocytopenia) have also been described. Lesions are usually pronounced in childhood, but can also develop later in life. They pulse lightly, are blue in color and compressible. The most important clinical manifestations are acute or chronic bleeding due to multiple vascular malformations in the IT, usually in the small intestine. Acute bleeding manifests itself as vomiting blood, melena (bloody stools), or rectal bleeding. Without radical treatment, patients with BRBNS become anemic due to chronic gastrointestinal bleeding and must be treated with iron and blood transfusion throughout their lives. Malignant transformation of the lesions has not yet been described. Rare complications of gastrointestinal malformations include volvulus, intussusception, and intestinal infarction. The cause of the syndrome is unknown. Most cases appear isolated, but several families with autosomal dominant inheritance have been described. Mutations in the TEK/TIE2 (9p21) gene, encoding an endothelial receptor tyrosine kinase, are likely responsible for familial cases. Diagnostic methods for RSNB include hematology, endoscopy, ultrasound, CT, MRI, and histopathology. The differential diagnosis includes: vascular tumors, benign (hemangiomas) or malignant (Kaposi's sarcoma, angiosarcoma); Vascular abnormalities associated with congenital or systemic diseases (Klippel-Trenaunay-Weber, Ehlers-Danlos, CREST variant of scleroderma, Osler-Weber-Rendu syndrome) and acquired or sporadic lesions (angiodysplasia, vascular ectasia of the pylorus antrum, radiation-induced vascular ectasia and skin nevus lesions Dieulafoy (see these terms) generally do not bleed: surgical resection, sclerotherapy or embolization give good cosmetic results, otherwise massive gastrointestinal bleeding -intestinal, conservative treatment with iron administration and/or blood transfusions is sufficiently ineffective.. effective are corticosteroids, antifibrinolytics, high intravenous doses of gamma globulin and alpha interferon
Image by Mohammad2018/Wikimedia
blue rubber bleb nevus syndrome
Mohammad2018/Wikimedia
Causes
Idiopathic - Unknown
Image by PaliGraficas/Pixabay
Idiopathic - Unknown
Image by PaliGraficas/Pixabay
What Causes Blue Rubber Bleb Nevus Syndrome?
Currently the cause of blue rubber bleb syndrome is not known.
Source: Genetic and Rare Diseases (GARD) Information Center
Symptoms
BRBNS - Cutaneous haemangiomas affecting right chest wall in the patient with blue rubber bleb nevus syndrome
Image by Lee C et al./Wikimedia
BRBNS - Cutaneous haemangiomas affecting right chest wall in the patient with blue rubber bleb nevus syndrome
Image by Lee C et al./Wikimedia
What Are the Signs and Symptoms of Blue Rubber Bleb Nevus Syndrome?
Blue rubber bleb nevus syndrome can affect other body organs as well. Nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, mouth, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder. Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (1)
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IntestinesCase-36-back
Visceral hemangiomas seen in blue rubber bleb nevus syndrome. The hemangiomas chiefly affect the gut (image above), are fragile, and bleed easily.
Image by Herbert L. Fred, MD and Hendrik A. van Dijk/Wikimedia
Sensitive content
This media may include sensitive content
IntestinesCase-36-back
Herbert L. Fred, MD and Hendrik A. van Dijk/Wikimedia
Treatment
Dr Williams' 'Pink Pills', London, England, 1850-1920
Image by Wellcome Collection gallery/Wikimedia
Dr Williams' 'Pink Pills', London, England, 1850-1920
Dr Williams' 'Pink Pills' were advertised as an iron rich tonic for the blood and nerves to treat anaemia, clinical depression, poor appetite and lack of energy. The tablets were originally advertised as 'Pink Pills for Pale People'. Users of the product claimed the pills could even cure paralysis.
The patent for the pills was bought by an American politician, Senator George T Fulford (1852-1905) in 1890. Fulford made the product an international success.
maker: G T Fulford and Company Limited, maker: Dr Williams Medicine Company
Place made: London, Greater London, England, United Kingdom
Wellcome Images
Keywords: medicinal tonic; Paralysis; anaemia; Depression
Image by Wellcome Collection gallery/Wikimedia
How Might Blue Rubber Bleb Nevus Syndrome Be Treated?
Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary. Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding (hemorrhage).
Source: Genetic and Rare Diseases (GARD) Information Center
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Blue Rubber Bleb Nevus Syndrome
Blue rubber bleb nevus syndrome, sometimes called Bean syndrome, is a rare condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). Explore symptoms and treatment.