Venous malformation of the soft tissue associated with blue rubber bleb nevus syndrome: prenatal imaging and impact on postnatal management

Abstract

Venous malformation of the soft tissue associated with blue rubber bleb nevus syndrome: prenatal imaging and impact on postnatal managementBean syndrome or blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by venous malformation of varying size and appearance present mainly on the skin and gastrointestinal tract. The diagnosis is usually established in the postnatal period or later when complications occur, including anemia or intestinal bleeding 1,2 . We report two prenatal cases of large cutaneous venous malformations that were associated with BRBNS and were complicated by lifethreatening consumptive coagulopathy soon after birth.The first patient was referred at 29 weeks' gestation with an isolated large axillary cystic lesion (48 × 32 mm) detected on routine ultrasound examination. Numerous septa and echogenic nodules were present ( Figure 1a and b). The lesion had a heterogeneous intermediate signal on T2-weighted magnetic resonance imaging (MRI) and the echogenic nodules demonstrated hypersignals and hyposignals on T1-and T2-weighted imaging, respectively ( Figure 1c). Deformation of the chest wall and the intermediate signal on T2-weighted images were retrospectively atypical of our prenatal diagnosis of macrocystic lymphatic malformation (Figure 1d). Postnatal examination confirmed a huge left axillary mass associated with a 5-mm bleb lesion on the right foot and many punctiform lesions suggestive of BRBNS (Figure 2a-c). Consumptive coagulopathy occurred in the first days of postnatal life and warranted antithrombotic treatment and percutaneous sclerotherapy using Ethibloc and alcohol. Two additional sclerotherapies resulted in a significant decrease in size of the mass (Figure 2d).The second patient was referred at 25 weeks' gestation with an exophytic midline dorsal tumoral lesion (65 × 45 mm) detected on a routine ultrasound examination. The lesion was mainly cystic with thin internal echoes and septa (Figure 3a). Findings on MRI were similar to those of the previous case (Figure 3b). Postnatal examination confirmed a huge angiomatous dorsal mass of venous origin associated with a blue papule on the scalp suggestive of BRBNS (Figure 3c). MRI confirmed typical findings of a large venous lesion with multiple internal thromboses (Figure 3d and e). Because of severe coagulopathy, percutaneous sclerotherapy using alcohol and Sotradecol was performed at the age of 1 month.

Blue rubber bleb nevus syndrome: a single-center case series in 12 years

“…Ninety-four-point-eight percent patients have cutaneous lesions according to the latest statistical analysis, extremities were most frequently involved (70.0 %), followed by trunk (66.4%) and head (30.8%), about 10.4% also had perineal involvement, the onset of lesions are usually at birth (49.4%) ( 9), fetal period is rare, but it has also been reported. Monrigal axillary lesion at 29 weeks and another was an exophytic midline dorsal tumoral lesion at 25 weeks' gestation (10). Among our cases, 87.5% patients had cutaneous lesions, extremities were involved (100%), trunk (57.1%) and head (28.6%), 5 patients started during infancy (two of them from birth).…”

A multidisciplinary approach to caring for a pregnant patient with blue rubber bleb nevus syndrome: A case report

“…Literature on the management of BRBNS in pregnancy is rare. Documented complications of BRBNS in pregnant patients have included involvement of the vaginal vault prohibiting a vaginal delivery [ 5 ], airway and neuraxial compromise with contraindications to epidural anesthesia [ 6 ], pulmonary embolism [ 7 ], severe GI bleeding requiring laparotomy and small bowel resection [ 8 ], acute intestinal intussusception complicated by postoperative disseminated intravascular coagulation [ 9 ], anterior abdominal wall involvement resulting in hemorrhage during cesarean delivery [ 17 ], and hemorrhage and consumptive coagulopathy of the affected neonate [ 10 ]. Because of the breadth of potential complications associated with BRBNS, a multidisciplinary approach to prenatal and intrapartum care is necessary.…”

“…While the exact etiology of BRBNS is not clear, most cases occur sporadically, while some familial cases with autosomal dominant inheritance have been noted [ [2] , [3] , [4] ]. Approximately 200 cases of BRBNS have been published in the literature with a very small subset documented among pregnant women [ [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] ]. Reports of BRBNS in pregnant women have described the presence of VMs in several locations, such as the GI tract, central nervous system, airway, spinal epidural space, vaginal vault, and anterior abdominal wall, creating obstetrical concerns that require consultation with physicians of numerous specialties.…”

Association of blue rubber bleb nevus syndrome and placenta previa: Report of a case

“…The other two patients had hemangiomas on the vulvar or vaginal wall, and they underwent cesarean section . Monrigal et al reported two prenatal cases of large cutaneous venous malformations that were associated with BRBNS.…”