Severe Gastrointestinal Bleeding during Pregnancy in a Case of Blue Rubber Bleb Nevus Syndrome

Kanai, Masashi; Noike, Masami; Masaki, Chiho; Kita, Naoko; Ashida, Takashi; Kobayashi, Takao; Konishi, Ikuo

doi:10.1055/s-2005-872433

Cited by 12 publications

(16 citation statements)

References 14 publications

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“…BRBNS patients suffer from severe complications such as rupture of larger malformations with potentially lifethreatening intestinal bleeding. 4,7–8 Our results together with published data suggest that this moderate but steady increase of vessel size is based on the low number of dividing endothelial cells. 9 …”

Section: Discussionsupporting

confidence: 72%

Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome

Mogler¹,

Beck

Kulozik

et al. 2010

Rare Tumors

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The blue rubber bleb nevus syndrome (BRBNS, syn. bean syndrome) is a rare disease characterized by multiple cutaneous and gastrointestinal venous malformations associated with severe bleeding. However, the underlying molecular mechanisms are unknown and no targeted therapeutic approach exists to date. Here we report the case of a 19-year-old male patient with severe BRBNS in whom we analyzed the expression of tyrosine kinases frequently involved in tumor development by immunohistochemistry (vascular endothelial growth factor receptor-2, stem cell growth factor receptor (c-kit), platelet-derived growth factor receptor-β, and stem cell tyrosine kinase-1). A prominent expression of c-kit was detectable in smaller blood vessels, which also showed a moderate expression of the proliferation marker MIB1. Surprisingly, other growth factor receptors stained negatively. We therefore conclude that pharmacological inhibition of the c-kit signaling pathway in cavernous hemangiomas by selective kinase inhibitors may offer options in the treatment of BRBNS patients.

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Section: Discussionsupporting

confidence: 72%

Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome

Mogler¹,

Beck

Kulozik

et al. 2010

Rare Tumors

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“…A MEDLINE search identified only three reports of BRBNS during pregnancy. Kanai et al 2 . described a patient with BRBNS who did not have cervical lesions but rather developed severe intestinal hemorrhage during pregnancy.…”

Section: Discussionmentioning

confidence: 99%

“…BRBNS is a rare disorder characterized by venous malformations in the skin, gastrointestinal tract, and less often, in other internal organs, including the central nervous system, thyroid, lung, heart, liver, and genitourinary tract. [1][2][3][4] Cutaneous lesions typically are soft, compressible, reddish or purple, and multiple. They may be present anywhere on the body but usually are asymptomatic, except for pain in some instances.…”

Section: Discussionmentioning

confidence: 99%

Blue rubber bleb nevus syndrome: Report of a patient with hemangiomas of the vaginal portion of the cervix appearing during pregnancy

Tanaka

Tsuda

Samura

et al. 2007

J of Obstet and Gynaecol

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Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder showing venous malformations in the skin and gastrointestinal tract, and other internal organs. We encountered a patient with BRBNS in whom hemangiomas of the uterine cervix appeared during pregnancy. This was apparently the first reported occurrence. To avoid unexpected bleeding from hemangiomas, patients with BRBNS should be examined repeatedly for hemangiomas of the birth canal, and special care should be taken in deciding the mode of delivery.

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“…Conversely, a further patient developed massive GI bleeding and severe anaemia during pregnancy and required laparotomy and small-bowel resection at 19 weeks gestation to remove a segment of ileum containing multiple venous malformations. 6 Despite these complications, these cases had good maternal and fetal outcomes. Interestingly, two other patients developed vascular malformations during their pregnancies.…”

Section: Discussionmentioning

confidence: 99%

Venous malformations of the anterior abdominal wall in blue rubber bleb naevus syndrome: implications for antenatal and intrapartum management

et al. 2011

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Summary: Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular disorder characterized by rubbery blue -purple cutaneous nodules that are histologically thin-walled dilated vascular spaces. The exact inheritance of the disease in unknown but in cases of familial recurrence, there appears to be a pattern of autosomal dominant inheritance. The vascular lesions may manifest in any organ system but tend to predominate in the gastrointestinal tract (GI). There are only a handful of cases reported in the literature, but reported complications arising from the naevi include sponatenous GI bleeding requiring laparotomy and blood transfusion and the development of large naevi in the cervix thus preventing vaginal delivery. In this case we describe a patient with known BRBNS who developed symptomatic anaemia during her pregnancy which required antenatal admission and blood transfusion. She was managed expectantly in a multidisciplinary setting by obstetricians, gastroenterologists and an obstetric physician with the aim of a vaginal delivery. Nevertheless, she had an elective caesarean section at term for breech presentation. Surgery was complicated by the unexpected finding of venous malformations within the abdominal wall musculature and subcutaneous fat that resulted in a primary haemorrhage and required urgent blood transfusion. The patient made a good postoperative recovery and had a healthy male infant who at birth displayed no external features of BRBNS. This report demonstrates for the first time the appearance of naevi in the abdominal wall and the important considerations that need to be made regarding mode of delivery and future pregnancies.Keywords: maternal-fetal medicine, high-risk pregnancy, clinical genetics CASE REPORTBlue rubber bleb naevus syndrome (BRBNS) is a rare genetic disorder of which familial recurrences consistent with autosomal dominant inheritance have been reported. The condition is characterized by multifocal, rubbery, blue -purple cutaneous nodules whose histology appears as thin-walled dilated vascular spaces. These slow-flow vascular malformations can occur in other organs, particularly the small bowel where they predispose to gastrointestinal (GI) bleeding. Lesions can also occur in other organs and tissues, including brain and muscle, and patients are at risk of thrombocytopenia and consumptive coagulopathy.1,2 We report the management of a patient with known BRBNS in whom vascular lesions in the anterior abdominal wall resulted in unexpected blood loss during delivery by caesarean section.Our patient was diagnosed with BRBNS in childhood when she presented with increasing numbers of small, blue cutaneous naevi at the age of four months (Figure 1). Prior to adulthood she underwent abdominal surgery for GI bleeding from small-bowel vascular malformations on two occasions and had further surgery for bowel obstruction secondary to abdominal adhesions. At the age of 18 years, she had a magnetic resonance imaging (MRI) brain scan that was normal. Thereafter, she remained well until age...

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Severe Gastrointestinal Bleeding during Pregnancy in a Case of Blue Rubber Bleb Nevus Syndrome

Cited by 12 publications

References 14 publications

Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome

Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome: Report of a patient with hemangiomas of the vaginal portion of the cervix appearing during pregnancy

Venous malformations of the anterior abdominal wall in blue rubber bleb naevus syndrome: implications for antenatal and intrapartum management

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