Department of Paediatrics and Child Health, Aga Khan University Hospital,Karachi, Pakistan.
Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan.
J Pak Med Assoc. 2022 Feb;72(2):349-353. doi: 10.47391/JPMA.1309.
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder in which there is development of multiple venous malformations and haemangiomas in the skin and visceral organs. The lesions mostly involve the skin and gastrointestinal systems but other organs, including the liver, muscles, and the central nervous system, can also be involved. If untreated, affected individuals develop severe anaemia. Most cases are managed with iron supplementation and blood transfusions but some may require surgical resection, endoscopic sclerosis and laser photocoagulation. Here, we present a case of BRBNS in a four-year-old girl with multiple cutaneous lesions, melena and severe anaemia. Review of South Asian literature showed that only two cases (besides ours) have been reported from Pakistan and the rest were from India. This highlights the lack of awareness of BRBNS among physicians in Pakistan and the rest of South Asian countries.
蓝色橡皮疱痣样静脉畸形综合征（BRBNS）是一种罕见疾病，其特征为皮肤和内脏器官出现多发静脉畸形和血管瘤。病变主要累及皮肤和胃肠道系统，但其他器官，包括肝脏、肌肉和中枢神经系统，也可能受累。如果不治疗，受累个体将发生严重贫血。大多数病例采用铁补充和输血治疗，但有些可能需要手术切除、内镜硬化和激光光凝。本文报告了一例 4 岁女孩 BRBNS 病例，其表现为多发性皮肤病变、黑便和严重贫血。对南亚文献的回顾显示，除了我们报告的病例外，巴基斯坦仅有两例（另外两例），其余均来自印度。这突出表明巴基斯坦和其他南亚国家的医生对 BRBNS 的认识不足。
