Sara Isoldi1, Dalia Belsha2, Intan Yeop3, Aliye Uc4, Noam Zevit5, Petar Mamula6, Anthony Meneloas Loizides7, Merit Tabbers8, Don Cameron9, Andrew S Day10, Marwa Abu-El-Haija4, Voranush Chongsrisawat11, Graham Briars12, Keith J Lindley3, Jutta Koeglmeier3, Neil Shah3, John Harper13, Samira Batul Syed3, Mike Thomson2. 1. Centre of Paediatric Gastroenterology, Sheffield Children's Hospital, Sheffield, United Kingdom. Electronic address: sara.isoldi@uniroma1.it. 2. Centre of Paediatric Gastroenterology, Sheffield Children's Hospital, Sheffield, United Kingdom. 3. Great Ormond Street Hospital, London, United Kingdom. 4. University of Iowa Carver College of Medicine, Iowa City, IA, United States. 5. Institute of Gastroenterology, Nutrition and Liver Diseases, Schneider Children's Medical Center of Israel Petach Tikva, Israel. 6. Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, United States. 7. Department of Pediatrics, Albert Einstein College of Medicine, Division of Pediatric Gastroenterology and Nutrition, Children's Hospital at Montefiore, Bronx, NY, United States. 8. Departments of Pediatric Gastroenterology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands. 9. Monash University and Southern Health, Parkville, Victoria, Australia. 10. Department of Paediatrics, University of Otago (Christchurch), Christchurch, NZ, United States. 11. Center of Excellence in Clinical Virology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. 12. Department of Paediatric Gastroenterology, Norfolk and Norwich University Hospital, Norwich, United Kingdom. 13. Institute of Child Health, University College London, United Kingdom.
Abstract
BACKGROUND: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations. AIMS: To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied. PATIENTS AND METHODS: Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS. RESULTS: Eighteen patients diagnosed with BRBNS were included. Cutaneous venous malformations were observed in 78% and gastrointestinal venous malformations in 89%. Lesions were also found in other organs including muscles, joints, central nervous system, eyes, parotid gland, spine, kidneys and lungs. Gastrointestinal lesions were more common in the small intestine than in stomach or colon. The management varied significantly among centers. Endoscopic therapy and surgical therapy alone failed to prevent recurrence of lesions. In younger children and in patients with musculoskeletal or other organ involvement, sirolimus was used with 100% success rate in our series (5 patients treated) although poor compliance with subtherapeutic sirolimus trough levels led to recurrence in a minority. CONCLUSIONS: Considering the multi-organ involvement in BRBNS, diagnosis and management requires a multidisciplinary approach. The treatment includes conservative, medical, endoscopic and surgical options. Prospective multicenter studies are needed to identify the optimal management of this rare condition.
BACKGROUND: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations. AIMS: To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied. PATIENTS AND METHODS: Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS. RESULTS: Eighteen patients diagnosed with BRBNS were included. Cutaneous venous malformations were observed in 78% and gastrointestinal venous malformations in 89%. Lesions were also found in other organs including muscles, joints, central nervous system, eyes, parotid gland, spine, kidneys and lungs. Gastrointestinal lesions were more common in the small intestine than in stomach or colon. The management varied significantly among centers. Endoscopic therapy and surgical therapy alone failed to prevent recurrence of lesions. In younger children and in patients with musculoskeletal or other organ involvement, sirolimus was used with 100% success rate in our series (5 patients treated) although poor compliance with subtherapeutic sirolimus trough levels led to recurrence in a minority. CONCLUSIONS: Considering the multi-organ involvement in BRBNS, diagnosis and management requires a multidisciplinary approach. The treatment includes conservative, medical, endoscopic and surgical options. Prospective multicenter studies are needed to identify the optimal management of this rare condition.
Authors: Jian-Xun Ma; You-Chen Xia; Li-Ping Zou; Heng-Ju Lin; Xu Chang; Li-Ying Liu; Joy Roechelle A Toledo Journal: SAGE Open Med Case Rep Date: 2022-05-11