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- Presentation
Pediatric Blue Rubber Bleb Nevus Syndrome With Massive Vascular Malformation, Coagulopathy, and DIC
Description
This case describes a 15-month-old girl with a massive congenital vascular malformation initially referred to as a lymphatic hemangioma, later felt to be blue rubber bleb nevus syndrome with a dominant venous malformation. She had progressive enlargement of a huge violaceous truncal lesion, smaller blue-purple papules on acral sites, chronic anemia, and severe localized intravascular coagulopathy with very high D-dimer and low fibrinogen, though she initially did not meet full DIC criteria. Imaging showed an extensive venous or veno-lymphatic malformation involving the chest, abdominal wall, retroperitoneum, peritoneum, ribs, paraspinal tissues, and neural foramina, with mass effect and hemorrhagic/clot components. Biopsy of smaller blebs supported venous/cavernous malformation, and genetic testing on tissue was negative for a known pathogenic variant, though the diagnosis was still favored clinically. She was treated with antibiotics for sepsis and MSSA bacteremia, transfusions, vitamin K, anticoagulation, and sirolimus, then underwent repeated sclerotherapy and microwave ablation with initial improvement in lesion size and coagulation labs. However, after a third procedure she developed severe anemia, hypoxemia, hypotension, petechiae, pulmonary hemorrhage, and hematuria, felt to represent intralesional consumptive thrombosis progressing to DIC, and despite attempts at resuscitation she died. The talk also reviewed blue rubber bleb nevus syndrome, emphasizing its typical cutaneous and gastrointestinal venous lesions, chronic anemia, localized intravascular coagulopathy, the rarity but possibility of DIC after procedures, the role of somatic TEC/TIE2 pathway mutations and mosaicism, and the importance of sending tissue rather than blood for genetic testing. Management is usually multidisciplinary and may include sirolimus, which can reduce lesion burden, bleeding, transfusion needs, and improve quality of life, though it is not curative.
View moreConclusions
- The patient’s large vascular lesion was ultimately felt to be most consistent with blue rubber bleb nevus syndrome rather than a simple lymphatic or venous malformation.
- Markedly elevated D-dimer with low fibrinogen suggested localized intravascular coagulopathy, but she did not initially meet full DIC criteria.
- Sepsis and invasive procedures complicated management, requiring antibiotics, anticoagulation, transfusions, vitamin K, and temporary holding of sirolimus.
- Imaging showed an exceptionally extensive venous or veno-lymphatic malformation with invasion of the chest, abdomen, ribs, and neural foramina, explaining her severe functional impairment.
- Biopsy of smaller blebs supported a venous malformation diagnosis, while genetic testing was negative despite the strong clinical suspicion for BRBN syndrome.
- The case illustrates that blood-based genetic testing may miss mosaic TEK-related disease, so affected tissue is often needed for molecular confirmation.
- Sirolimus can improve coagulation abnormalities and reduce lesion burden in BRBN syndrome, but it is not curative and benefits are often partial.
- A multimodal vascular anomaly team approach is essential, combining dermatology, surgery, interventional radiology, hematology, and radiology.
- Sclerotherapy and ablation initially improved imaging and coagulation markers, but repeated procedures in a patient with a massive lesion carried substantial risk.
- The third intervention likely triggered catastrophic consumptive thrombosis and DIC, leading to profound anemia, hemorrhage, and the patient’s death despite resuscitative efforts.
- Overall, the presentation suggests that large dominant lesions in BRBN syndrome can become life-threatening when procedural trauma precipitates intralesional thrombosis and DIC.
- Earlier or alternative strategies may be worth considering in similarly severe cases, but optimal timing and approach remain uncertain.
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