Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series

Isoldi, Sara; Belsha, Dalia; Yeop, Intan; Uç, Aliye; Zevit, Noam; Mamula, Petar; Loizides, Anthony M.; Tabbers, Merit M.; Cameron, Donald J. S.; Day, Andrew S.; Haija, Marwa Abu El; Chongsrisawat, Voranush; Briars, Graham; Lindley, Keith; Köeglmeier, Jutta; Shah, Neil; Harper, John; Syed, Samira; Thomson, Mike

doi:10.1016/j.dld.2019.04.020

Cited by 36 publications

(41 citation statements)

References 47 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…While symptoms usually improve with treatment, similar to our patient, a swift recurrence is observed with temporary discontinuation of therapy 5,9 . Different target trough levels have been recommended in the literature.…”

Section: Discussionsupporting

confidence: 80%

“…Due to its anti‐angiogenetic properties, it has also proved to be an effective treatment option for various vascular tumors. Since the first report of its efficacy in an 8‐year‐old patient with BRBNS in 2012, this finding has been corroborated by several other reports 5,7–21 . Nevertheless data on long‐term sirolimus treatment in children with BRBNS are scarce and a standard approach concerning dosage, monitoring of target trough levels and overall duration of therapy has yet to be established.…”

Section: Discussionmentioning

confidence: 67%

See 1 more Smart Citation

Long‐term sirolimus treatment in blue rubber bleb nevus syndrome: Case report and review of the literature

Weiss

Teichler

Hoeger

2020

Pediatric Dermatology

View full text Add to dashboard Cite

Blue rubber bleb nevus syndrome is a rare vascular syndrome characterized by continuous eruption of vascular nodules in the skin, mucous membranes, and solid organs due to somatic activating mutations of the angiopoietin receptor TEK gene. It may be complicated by acute life-threatening hemorrhage and localized intravascular coagulation. We report an 11-year-old girl with complicated blue rubber bleb nevus syndrome treated with sirolimus since the age of 2. We review the literature on sirolimus therapy for children with blue rubber bleb nevus syndrome.

show abstract

Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 67%

Long‐term sirolimus treatment in blue rubber bleb nevus syndrome: Case report and review of the literature

Weiss

Teichler

Hoeger

2020

Pediatric Dermatology

View full text Add to dashboard Cite

show abstract

“…The skin (78%) and gastrointestinal tract (89%) are most commonly affected. 3 While bleeding from gastrointestinal lesions can be problematic later in life, this patient presented with a life-threatening consumptive coagulopathy due to pooling of blood in the large posterior trunk venous malformation.…”

Section: Discussionmentioning

confidence: 92%

Keystone Flap Reconstruction after Resection of a Large Paraspinal Venous Malformation in an Infant

Parus

Waler

Westmoreland

et al. 2020

Plastic and Reconstructive Surgery - Global Open

View full text Add to dashboard Cite

Summary: The keystone flap is well known to plastic surgeons and is frequently utilized for its ease of implementation, limited donor site morbidity, and favorable aesthetic outcomes. Although keystone flaps have been described in reconstruction of myelomeningocele defects, there have been no reports of their application to infants with large vascular malformations. This case illustrates the utilization of a keystone flap in reconstruction of a large posterior trunk defect that resulted from excision of a massive venous malformation in an 8-week-old infant with blue rubber bleb nevus syndrome. The patient’s consumptive coagulopathy resolved in the early postoperative period, and long-term follow-up demonstrated a favorable aesthetic outcome. This case reiterates the power and versatility of the keystone flap technique through its novel application to an infant with a life-threatening venous malformation on the posterior trunk.

show abstract

“…3,6,20 Mortality in patients with BRBNS was mostly reported in severe GI involvement such as intussusception, perforation and volvulus. [21][22][23] Barium swallow, upper and lower Endoscopy, nuclear imaging, abdominal CT scan and MRI can be beneficial in diagnosis of GI tract lesions. Barium swallow can elucidate polypoid lesions in the upper GI tract but cannot differentiate vascular malformations from other types of lesions.…”

Section: Discussionmentioning

confidence: 99%

Blue Rubber Bleb Nevus Syndrome because of 12 Years of Iron Deficiency Anemia in a Patient by Double Balloon Enteroscopy; A Case Report and Review of Literature

Moghadam

Bagheri

Eslami

et al. 2021

Middle East J Dig Dis

View full text Add to dashboard Cite

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder comprised of venous malformation mostly involving the skin and gastrointestinal (GI) tract but can also involve other visceral organs. The most predominant site of GI tract involvement is the small bowel. In patients with GI lesions, treatment depends on the severity of bleeding, and extent of involvement. Conservative therapy with iron supplementation and blood transfusion is appropriate in cases with mild bleeding but in severe cases endoscopic and surgical interventions would be beneficial. Also, medical therapy with sirolimus significantly reduces bleeding. A 20-year-old woman was referred to our hospital after transfusion of six units of packed cell because of several episodes of lower GI bleeding within the past three months in the form of melena and a single episode of hematochezia. Her last hemoglobin level before admission was 10mg/dl. She underwent various unsuccessful investigations since she was eight years old to find the origin of refractory iron deficiency anemia. In upper endoscopy, five bleeding polypoid lesions were discovered in the jejunum. Lesions were excised by snare polypectomy. Over a six-month follow-up period, no signs of lower GI bleeding were noted and the patient had a normal hemoglobin level.

show abstract

Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series

Cited by 36 publications

References 47 publications

Long‐term sirolimus treatment in blue rubber bleb nevus syndrome: Case report and review of the literature

Long‐term sirolimus treatment in blue rubber bleb nevus syndrome: Case report and review of the literature

Keystone Flap Reconstruction after Resection of a Large Paraspinal Venous Malformation in an Infant

Blue Rubber Bleb Nevus Syndrome because of 12 Years of Iron Deficiency Anemia in a Patient by Double Balloon Enteroscopy; A Case Report and Review of Literature

Contact Info

Product

Resources

About