周亚彬, 段若愚, 姚佳峰, 秦茂权, 邓江红, 徐子刚, 吴润晖. 以皮疹为首发表现的儿童期慢性中性粒细胞白血病[J]. 罕见病研究, 2022, 1(4): 413-419. DOI: 10.12376/j.issn.2097-0501.2022.04.009
引用本文: 周亚彬, 段若愚, 姚佳峰, 秦茂权, 邓江红, 徐子刚, 吴润晖. 以皮疹为首发表现的儿童期慢性中性粒细胞白血病[J]. 罕见病研究, 2022, 1(4): 413-419. DOI: 10.12376/j.issn.2097-0501.2022.04.009
ZHOU Yabin, DUAN Ruoyu, YAO Jiafeng, QIN Maoquan, DENG Jianghong, XU Zigang, WU Runhui. Skin Rash as the First Manifestation of Pediatric Chronic Neutrophilic Leukemia[J]. Journal of Rare Diseases, 2022, 1(4): 413-419. DOI: 10.12376/j.issn.2097-0501.2022.04.009
Citation: ZHOU Yabin, DUAN Ruoyu, YAO Jiafeng, QIN Maoquan, DENG Jianghong, XU Zigang, WU Runhui. Skin Rash as the First Manifestation of Pediatric Chronic Neutrophilic Leukemia[J]. Journal of Rare Diseases, 2022, 1(4): 413-419. DOI: 10.12376/j.issn.2097-0501.2022.04.009

以皮疹为首发表现的儿童期慢性中性粒细胞白血病

Skin Rash as the First Manifestation of Pediatric Chronic Neutrophilic Leukemia

  • 摘要: 一例6岁女童,初期表现为反复发作的皮疹,近期出现关节痛,血常规发现中性粒细胞增多。经过多学科病例讨论,最终诊断为慢性中性粒细胞白血病,经羟基脲和芦可替尼治疗后症状缓解,随后进行异基因造血干细胞移植,目前情况稳定并在随访中。慢性中性粒细胞白血病属于罕见病,极少发生于儿童,以皮疹为首发表现的更难诊断。对该病例的诊治体现了多学科协作在疑难罕见病诊疗中的重要作用。

     

    Abstract: A 6-year-old girl presented with recurrent skin rash at the initial stage, recent joint pain, and neutrophilia was found during a routine blood test. After a multidisciplinary case discussion, she was diagnosed with chronic neutrophil leukemia, and the symptoms were relieved after hydroxyurea and luxolitinib treatment. She received the allogeneic hematopoietic stem cell transplantation subsequently. At present, she is in stable condition and under follow-up. Chronic neutrophil leukemia is a rare disease, which rarely occurs in children. It is more difficult to diagnose in patients with skin rash as the first manifestation. The diagnosis and treatment of this case reflects the important role of multidisciplinary cooperation in the diagnosis and treatment of difficult and rare diseases.

     

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