Ralph Salloum1, Courtney E Fox2, Carlos R Alvarez-Allende3, Adrienne M Hammill4,2, Roshni Dasgupta5, Belinda H Dickie5, Paula Mobberley-Schuman4, Mary Sue Wentzel4, Carol Chute4,2, Ajay Kaul6, Manish Patel7, Arnold C Merrow7, Anita Gupta8, John R Whitworth9, Denise M Adams10. 1. Division of Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. ralph.salloum@cchmc.org. 2. Hemangioma and Vascular Malformation Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 3. Children's Hospital, Calgary, Alberta. 4. Division of Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 5. Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 6. Division of Gastroenterology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 7. Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 8. Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 9. Division of Gastroenterology, Le Bonheur Children's Hospital, The University of Tennessee Health Science Center, Memphis, Tennessee. 10. Vascular Anomalies Center, Boston Children's Hospital, Boston, Massachusetts.
Abstract
BACKGROUND: Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal venous malformation syndrome involving predominantly the skin and gastrointestinal tract. Traditional treatment modalities include corticosteroids, interferon-α, sclerotherapy, and aggressive surgical resection. Sirolimus has been used in several single case reports. PROCEDURE: We performed a single-institution retrospective review of four children with BRBNS, who received sirolimus as part of their treatment regimens. A diagnosis of BRBNS was based on clinical, radiologic, and pathologic criteria. RESULTS: Median age was 6.5 years (range: 2-16 years). Pathologic evaluations revealed a combined malformation with venous and lymphatic components. The novel finding of a lymphatic component was confirmed with PROX-1 immunostaining. Patients received oral sirolimus with target drug levels between 10 and 13 ng/ml. Responses to treatment were defined as stabilization/decrease in size of lesions; resolution of transfusion requirements; reduction in pain, and improvement in quality of life (QOL). Median time to response was 1.5 months (SD ± 0.96 month, range: 1-3 months). Median follow-up was 21 months (range: 18-26 months). Lesion size and characteristics improved in all patients. All patients reported decrease in pain and improvement in QOL. All three patients requiring transfusions became transfusion-independent. One patient had resolution of coagulopathy. Adverse effects of sirolimus consisted of mucositis in three patients and neutropenia in one patient. CONCLUSIONS: Sirolimus is safe and efficient for the treatment of BRBNS. Further prospective studies are needed to evaluate the long-term effectiveness of this drug. This is the first report that identifies a lymphatic component as part of BRBNS.
BACKGROUND: Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal venous malformation syndrome involving predominantly the skin and gastrointestinal tract. Traditional treatment modalities include corticosteroids, interferon-α, sclerotherapy, and aggressive surgical resection. Sirolimus has been used in several single case reports. PROCEDURE: We performed a single-institution retrospective review of four children with BRBNS, who received sirolimus as part of their treatment regimens. A diagnosis of BRBNS was based on clinical, radiologic, and pathologic criteria. RESULTS: Median age was 6.5 years (range: 2-16 years). Pathologic evaluations revealed a combined malformation with venous and lymphatic components. The novel finding of a lymphatic component was confirmed with PROX-1 immunostaining. Patients received oral sirolimus with target drug levels between 10 and 13 ng/ml. Responses to treatment were defined as stabilization/decrease in size of lesions; resolution of transfusion requirements; reduction in pain, and improvement in quality of life (QOL). Median time to response was 1.5 months (SD ± 0.96 month, range: 1-3 months). Median follow-up was 21 months (range: 18-26 months). Lesion size and characteristics improved in all patients. All patients reported decrease in pain and improvement in QOL. All three patients requiring transfusions became transfusion-independent. One patient had resolution of coagulopathy. Adverse effects of sirolimus consisted of mucositis in three patients and neutropenia in one patient. CONCLUSIONS:Sirolimus is safe and efficient for the treatment of BRBNS. Further prospective studies are needed to evaluate the long-term effectiveness of this drug. This is the first report that identifies a lymphatic component as part of BRBNS.
Authors: Anthony S Larson; Waleed Brinjikji; Katelyn R Anderson; Megha Tollefson; V Michelle Silvera; Julie B Guerin Journal: Interv Neuroradiol Date: 2021-08-16 Impact factor: 1.764
Authors: Carlos Augusto Metidieri Menegozzo; Fernando da Costa Ferreira Novo; Newton Djin Mori; Celso de Oliveira Bernini; Edivaldo Massazo Utiyama Journal: Int J Surg Case Rep Date: 2017-08-23