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Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review

Authors :
Li, Yanfang
Li, Xiaoying
Liu, Xianghong
Kang, Lili
Liu, Xinjie
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