Moskop Amy, Dalrymple Austin, Dolatshahi Leili
Department of Pediatrics.
Division of Adult & Pediatric Rheumatology.
J Pediatr Hematol Oncol. 2020 May;42(4):e244-e247. doi: 10.1097/MPH.0000000000001490.
Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organ systems. Patients can have hematologic manifestations, including Evans syndrome (ES), which is characterized by immune-mediated thrombocytopenia and anemia. The association of neurofibromatosis 1 (NF1) with autoimmune disorders is rarely reported. We will review the literature for this combination of disorders and describe a case of a 16-year-old girl who presents with immune-mediated cytopenias and is diagnosed with SLE, ES, and NF1. There are 7 reported cases of SLE and NF1 and only 2 are pediatric cases. There are no reports of the combination of SLE, ES, and NF1.
系统性红斑狼疮（SLE）是一种影响多个器官系统的自身免疫性疾病。患者可出现血液学表现，包括Evans综合征（ES），其特征为免疫介导的血小板减少和贫血。1型神经纤维瘤病（NF1）与自身免疫性疾病的关联鲜有报道。我们将回顾关于这两种疾病组合的文献，并描述一名16岁女孩的病例，她表现为免疫介导的血细胞减少，被诊断为SLE、ES和NF1。据报道，SLE和NF1的病例有7例，其中仅有2例为儿科病例。尚无SLE、ES和NF1组合的报道。
