Chinese Medical Sciences Journal ›› 2020, Vol. 35 ›› Issue (3): 278-282.doi: 10.24920/003656

• 病例报告 • 上一篇    下一篇



  1. 中国医学科学院血液病医院(中国医学科学院血液学研究所),实验血液学国家重点实验室,国家血液系统疾病临床医学研究中心,天津,300020
  • 收稿日期:2020-02-11 出版日期:2020-09-30 发布日期:2020-09-25
  • 通讯作者: 竺晓凡

A Homozygotic Mutation in KDSR may Cause Keratinization Disorders and Thrombocytopenia: A Case Report

Liu Chao,Chen Xiaoyan,Wu Wenqi,Zhu Xiaofan()   

  1. State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 300020 Tianjin, China
  • Received:2020-02-11 Published:2020-09-30 Online:2020-09-25
  • Contact: Zhu Xiaofan


3-酮-二氢鞘氨醇还原酶(3-keto-dihydrosphingosine reductase,KDSR)基因的致病性突变与皮肤角化异常和血小板功能受损有关。由于发生率低,至今尚无KDSR纯合突变致病的报道,亦无伴发肝血管内皮瘤的病例报道。我们报道了1例携带KDSR纯合错义突变的7月龄患儿,患者父母双方均为该基因的杂合突变携带者。出生时男婴红皮病样的皮肤表面覆盖有厚厚的鳞屑,1月龄时皮肤症状自发缓解。在2月龄时接受了肝血管内皮瘤切除术。此外,出生时患儿血小板计数降低(10~20×109/L),且伴有轻度的正细胞正色素性贫血,反复出现皮肤和牙龈出血。贫血在6月龄时自发缓解,而血小板计数仍较低(4~20×109/L),且糖皮质激素、免疫球蛋白或血小板生成素的疗效均不理想。

关键词: 3-酮-二氢鞘氨醇还原酶基因, 血小板减少, 角化异常, 婴幼儿肝血管内皮瘤


Pathogenic mutations in 3-keto-dihydrosphingosine reductase (KDSR) gene are associated with keratinization disorders and impaired platelet function. However, no case with both homozygotic mutation of KDSR and hepatic hemangioendothelioma has ever been reported due to its low prevalence. Here we report a seven months old Chinese boy with a homozygotic missense mutation in KDSR and both of his parents carry a same heterozygous mutation. He was born with thick plate-like scales overlying erythrodermic skin, but the skin symptoms were resolved spontaneously over the first month of his birth. He was also diagnosed with hepatic hemangioendothelioma at birth and accepted a resection surgery at 2 months old. At birth, his platelet count was severely low (10-20×109/L) with recurrent skin and gingival bleeding. Meanwhile, he suffered a mild normocytic, normochromic anemia with normal iron and hematinic levels. The anemia spontaneously recovered over the first 6 months, while the platelet count keeped at a low level (4-20×109/L). Treatment with corticosteroids, immunoglobulin or thrombopoietin was all suboptimal.

Key words: 3-keto-dihydrosphingosine reductase gene, thrombocytopenia, keratinization disorders, infantile hepatic hemangioendothelioma

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