目的 探讨以溶血性贫血为首发表现的肝豆状核变性（HLD）的临床特点及HLD与鱼鳞癣之间的关系。 方法　回顾分析1例以溶血性贫血为首发表现的肝豆状核变性伴鱼鳞癣患儿的临床表现、发病经过及诊断和治疗过程。 结果 患儿，女，10岁，临床以乏力、黄疸为首发症状，入院5 d后出现腹胀，进行性加重。网织红细胞8.5%，Coombs试 验阴性，角膜出现K-F环，全腹CT平扫示胸腔及腹腔积液，肝脏异常物质沉积，脾大。ATP7B及TGM1基因突变，均位 于第14对染色体上。确诊肝豆状核变性合并鱼鳞癣。给予驱铜、阻止铜吸收及口服维A酸等对症支持治疗，病情缓解。 结论　以溶血性贫血首发的HLD，且合并鱼鳞癣极其少见。

Objective To explore the clinical features of hepatolenticular degeneration (HLD) with hemolytic anemia as the first manifestation, and its relationship with ichthyosis. Method The clinical manifestations, course, diagnosis, and treatment of HLD combined with ichthyosis in one child who presented with hemolytic anemia as the first manifestation, were retrospectively analyzed. Results In ten-year-old girl, the first symptom was fatigue and jaundice, and then progressed to abdominal distension 5 days after admission. The reticulocyte percentage was 8.5%. Coombs test was negative. The K-F rings appeared on the cornea. The CT scan of Abdomen showed pleural and peritoneal effusion, abnormal substance deposition in liver and splenomegaly. There were mutations in ATP7B and TGM1 genes, both of which were located on fourteenth of chromosomes. The diagnosis of HLD combined with ichthyosis was confirmed. After symptomatic and supportive treatments such as removal of copper, prevention of the copper absorption and supplement of vitamin A, the disease was brought to remission. Conclusion HLD with hemolytic anemia as the first manifestation, combined with ichthyosis was extremely rare.