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Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review
- Source :
- Journal of International Medical Research; September 2020, Vol. 48 Issue: 9
- Publication Year :
- 2020
-
Abstract
- Mastocytosis is an accumulation of clonal mast cells within tissues and it is most commonly caused by an activating mutation in the KITgene. In this study, we report a neonatal case who presented with diffuse cutaneous mastocytosis (CM) at birth. In China, nine other cases of neonatal-onset CM have been reported in the literature since 2006. In those cases, diffuse CM and urticaria pigmentosa were the main symptoms, and mutations in exon 17 at codon 816 in KIT were identified.
Details
- Language :
- English
- ISSN :
- 03000605 and 14732300
- Volume :
- 48
- Issue :
- 9
- Database :
- Supplemental Index
- Journal :
- Journal of International Medical Research
- Publication Type :
- Periodical
- Accession number :
- ejs54156931
- Full Text :
- https://doi.org/10.1177/0300060520952621