Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia

作者：Wu, Li; Zhang, Yajie; Zi, Juan; Yan, Yinyan; Yu, Lihua; Lin, Danna; Huang, Lulu; Lai, Xiaorong; Liao, Xu; Yang, Lihua^*

来源：Frontiers in Pediatrics, 2022, 10: 940618.

DOI：10.3389/fped.2022.940618

• KDSR
• keratodermia
• thrombocytopenia
• children
• case report

KDSR (3-ketodihydrosphingosine reductase) is a short-chain dehydrogenase located in the endoplasmic reticulum. Mutations in KDSR cause defects in ceramides, which play a key role in the biological processes of the skin and other tissues. Herein, we report a case of compound heterozygous mutations in KDSR that caused progressive keratodermia and thrombocytopenia in a 2-year-old male patient.

• 单位
  南方医科大学