AUTHOR=Wu Li , Zhang Yajie , Zi Juan , Yan Yinyan , Yu Lihua , Lin Danna , Huang Lulu , Lai Xiaorong , Liao Xu , Yang Lihua 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.940618

DOI=10.3389/fped.2022.940618

ISSN=2296-2360

ABSTRACT=<p>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 <italic>KDSR</italic> that caused progressive keratodermia and thrombocytopenia in a 2-year-old male patient.</p>