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Blue Rubber Bleb Nevus Syndrome

Bean Syndrome

Blue rubber bleb nevus syndrome is a rare disorder consisting of multiple venous system malformations predominantly involving the skin, musculoskeletal system, and gastrointestinal tract. Lesions may involve any tissue and have a potential for severe bleeding and death.


Presentation

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
  • This disease is often associated with sideropenic anemia and occult bleeding. We report the case of chronic severe anemia in an old patient under oral anticoagulation treatment for chronic atrial fibrillation.[ncbi.nlm.nih.gov]
  • BRBNS is associated with anemia and occasionally involves orthopedic manifestations. A 6-year-old boy was referred to hospital for evaluation of anemia.[ncbi.nlm.nih.gov]
  • He also suffered from several episodes of melena, chronic anemia, and growth retardation. The endoscopic examination of the gastrointestinal tract revealed multiple bluish-black sessile and polypoid venous malformations in various sizes.[ncbi.nlm.nih.gov]
  • Recently, sirolimus was demonstrated to be effective in treating vascular lesions and lessening the frequency of bleeding and secondary iron deficiency anemia.[ncbi.nlm.nih.gov]
  • A 33-year-old woman had presented with some cutaneous and gastrointestinal hemangiomas with iron deficiency anemia three years previously and blue rubber bleb nevus syndrome was diagnosed.[ncbi.nlm.nih.gov]
Cerebral Palsy
  • This boy suffered from complex partial and generalized seizures and cerebral palsy. Multiple skeletal anomalies were also present from birth.[ncbi.nlm.nih.gov]
Chronic Cough
  • This case report describes a rare presentation of chronic cough secondary to endobronchial involvement with blue rubber bleb nevus syndrome (BRBNS) lesions.[ncbi.nlm.nih.gov]
  • Hemangiomas in the brain can lead to cerebral infarction or hemorrhage[ 6 ], hemangiomas in the vertebrae can lead to spinal cord compression[ 18 ], and hemangiomas in the bronchi can lead to chronic cough[ 19 ].[doi.org]
Bleeding Gums
  • She denied having melena, hematochezia, menorrhagia, bleeding gums or recurrent epistaxis, hemoptysis, hematemesis, dyspnea, and stomachache.[doi.org]
Lesion of the Tongue
  • The lesions on the tongue and right buccal mucosa often shrank to normal size, but increased to a size of 3 1 1 cm 3, and he had episodes of bleeding from these lesions.[jiaomr.in]
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]
  • 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]
  • Blue rubber bleb nevus syndrome (BRBNS) Disease Blue rubber bleb nevus syndrome is a vascular disease characterized by venous malformations and hemangiomas in the skin and visceral organs, most commonly the GI tract.[eyewiki.aao.org]
Blurred Vision
  • As the patient had no dyspnea, dysphagia, or blurred vision, she was given iron supplementation and blood transfusions. Two weeks later, a routine blood test showed that the hemoglobin was 7.7 g/dL. Fecal occult blood test was negative.[doi.org]
Back Pain
  • The authors report a case of BRBNS involving an 18-year-old female patient who presented with back pain and an epidural thoracic mass with cord compression.[ncbi.nlm.nih.gov]
  • . — 10-year-old boy with vague abdominal and back pain. Sagittal T2-weighted image of abdomen shows well-circumscribed strongly hyperintense mass ( arrow ) in retroperitoneum.[ajronline.org]
Flexion Contracture
  • 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]
Generalized Seizure
  • This boy suffered from complex partial and generalized seizures and cerebral palsy. Multiple skeletal anomalies were also present from birth.[ncbi.nlm.nih.gov]
Neurologic Manifestation
  • Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndrome. J Child Neurol 2002;17:219–222. PubMed CrossRef Google Scholar 14. Igawa T, Ooishi M, Ibe N, Ueno T, Takeda R, Yamada T, et al.[doi.org]

Workup

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.

Multiple Pulmonary Nodules
  • We report the case of a 37-year-old woman, with known BRBNS, who acquired an intractable cough with a radiograph revealing multiple pulmonary nodules.[ncbi.nlm.nih.gov]

Treatment

  • There are currently no effective treatments for BRBNS. Here, we report a case of successful treatment with a small dose of sirolimus of a BRBN patient with a de novo gene mutation.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: Sirolimus is safe and efficient for the treatment of BRBNS. Further prospective studies are needed to evaluate the long-term effectiveness of this drug.[ncbi.nlm.nih.gov]
  • We analyzed the clinical characteristics and treatment of this disorder in order to improve the diagnosis and treatment.[ncbi.nlm.nih.gov]
  • 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.[rarediseases.info.nih.gov]
  • Some patients also receive treatment due to cosmetic problems[ 10, 13, 14, 33 ]. The treatment of GI BRBNS is determined by the extent of intestinal involvement and severity of the disease.[doi.org]

Prognosis

  • 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.com]
  • The prognosis is unfavorable.[innovationinfo.org]

Etiology

  • 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.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]

Epidemiology

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

Pathophysiology

  • Etiology and Pathophysiology The etiology and pathophysiology of BRBNS is unknown, however activating mutations in the angiopoietin receptor TIE2/TEK have been determined as a potential cause for BRBNS (3).[eyewiki.aao.org]
  • Pathophysiology Skin manifestations can typically be found at birth, whereas, organ system involvement tends to appear later in life. [1] The internal organ system most frequently involved is the GI system, for which GI bleeding is a common symptom. [[emedicine.com]

Prevention

  • 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]
  • Recognising typical BRBNS skin lesions would provide a potential diagnosis and could prevent unnecessary procedures or invasive surgery.[ncbi.nlm.nih.gov]
  • We believe that a radical eliminatory approach by means of combined surgery and IOE is indicated for the BRBNS to prevent ongoing gastrointestinal bleeding.[ncbi.nlm.nih.gov]
  • 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]

References

Article

  1. Yuksekkaya H, Ozbek O, Keser M, et al. Blue rubber bleb nevus syndrome: successful treatment with sirolimus. Pediatrics. 2012;129(4):e1080-1084.
  2. Esposito C, Giurin I, Farina A, et al. Blue rubber bleb nevus: an uncommon cause of intestinal intussusception. Eur J Pediatr. 2012;171(7):1139-1140.
  3. Huang W, Rhodes A. A Case of Blue Rubber Bleb Nevus Syndrome with Gastrointestinal and Central Nervous System Involvement. Pediatr Dermatol. 2012;29(4):524-525.
  4. Starr BM, Katzenmeyer WK, Guinto F, et al. The blue rubber bleb nevus syndrome: a case with prominent head and neck findings. Am J Otolaryngol. 2005;26(4):282-284.
  5. Boente MD, Cordisco MR, Frontini MD, et al. Blue rubber bleb nevus (Bean syndrome): evolution of four cases and clinical response to pharmacological agents. Pediatr Dermatol 1999; 16:222 –227.
  6. Moodley M, Ramdial P. Blue rubber bleb nevus syndrome: case report and review of the literature. Pediatrics. 1993; 92:160 –162.
  7. Doi T, Masumoto N, Sonoda M, et al. Blue rubber bleb nevus syndrome with knee joint disorder. Pediatr Int. 2016;58(8):740-743
  8. Garen PD, Sahn EE. Spinal cord compression in blue rubber bleb nevus syndrome. Arch Dermatol. 1994;130(7):934-935.
  9. Giordano C, Battagliese A, di Gioia CR, et al. Blue rubber bleb nevus syndrome and pulmonary hypertension: an unusual association. Cardiovasc Pathol. 2004;13(6):317-322.
  10. Singal A, Vohra S, Sharma R, et al. Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis. Indian Pediatr. 2016; 53(6):525-7.
  11. McCarthy JC, Goldberg MJ, Zimbler S. Orthopaedic dysfunction in the blue rubber bleb nevus syndrome. J Bone Joint Surg Am 1982;64:280 –283.
  12. Shannon J, Auld J. Blue rubber bleb naevus syndrome associated with cortical blindness. Australas J Dermatol. 2005;46 (3):192-5.
  13. Senturk S, Bilici A, Miroglu TC, Bilek SU. Blue rubber bleb nevus syndrome: imaging of small bowel lesions with peroral CT enterography. Abdom Imaging. 2011;36(5):520-523.
  14. Yarlagadda R, Menda Y, Graham MM. Tc-99m red blood cell imaging in a patient with blue rubber bleb nevus syndrome. Clin Nucl Med. 2008;33(5):374-376.
  15. Lewis BS, Swain P. Capsule endoscopy in the evaluation of patients with suspected small intestinal bleeding: results of a pilot study. Gastrointest Endosc 2002; 56:349 –353.

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Last updated: 2019-07-11 20:09