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.

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