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

被引：5
作者：
Li, Yanfang [1 ,2 ]
Li, Xiaoying [3 ]
Liu, Xianghong [3 ]
Kang, Lili [3 ]
Liu, Xinjie [2 ]
机构：
[1] Shandong Univ, Qilu Childrens Hosp, Dept Neonatol, Cheeloo Coll Med, Jinan, Shandong, Peoples R China
[2] Shandong Univ, Qilu Hosp, Dept Pediat, Cheeloo Coll Med, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R China
[3] Shandong Univ, Qilu Childrens Hosp, Dept Neonatol, Jinan, Shandong, Peoples R China
来源：
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH | 2020年 / 48卷 / 09期
关键词：
Neonate; KITgene; diffuse cutaneous mastocytosis; mast cell; serum tryptase; mastocytosis; KIT D816V MUTATION; PEDIATRIC MASTOCYTOSIS; PERIPHERAL-BLOOD; ALLELE BURDEN; DIAGNOSIS; MANAGEMENT; CHILDREN;
D O I：
10.1177/0300060520952621
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Mastocytosis is an accumulation of clonal mast cells within tissues and it is most commonly caused by an activating mutation in theKITgene. 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.
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页数：8
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