A Homozygotic Mutation in <italic style="font-style: italic">KDSR</italic> may Cause Keratinization Disorders and Thrombocytopenia: A Case Report

Liu Chao; Chen Xiaoyan; Wu Wenqi; Zhu Xiaofan

doi:10.24920/003656

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

Chinese Medical Sciences Journal Vol. 35, Issue 3, Pages: 278-282(2020)

Case Reports | Updated：2024-04-10

- A Homozygotic Mutation in KDSR may Cause Keratinization Disorders and Thrombocytopenia: A Case Report
- Affiliations：
  
  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
- Author bio：
  
  * Tel/Fax: 86-22-23909001, E-mail: xfzhu@ihcams.ac.cn
- Funds：
- DOI：10.24920/003656
  CLC：
- Received：11 February 2020，
  
  Published Online：30 September 2020，
  
  Published：30 September 2020
- Accepted：
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Liu Chao, Chen Xiaoyan, Wu Wenqi, et al. A Homozygotic Mutation in KDSR may Cause Keratinization Disorders and Thrombocytopenia: A Case Report[J]. Chinese medical sciences journal, 2020, 35(3): 278-282.
DOI：

Liu Chao, Chen Xiaoyan, Wu Wenqi, et al. A Homozygotic Mutation in KDSR may Cause Keratinization Disorders and Thrombocytopenia: A Case Report[J]. Chinese medical sciences journal, 2020, 35(3): 278-282. DOI： 10.24920/003656.

摘要

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（10~20×10

/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（4~20×10

/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。

Abstract

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 (10-20×10

/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 (4-20×10

/L). Treatment with corticosteroids

immunoglobulin or thrombopoietin was all suboptimal.

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references

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

DOI：10.24920/003656

摘要

Abstract

关键词

Keywords

references