Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review-Reference-Cited by-同舟云学术

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

Published:2020-09 Issue:9 Volume:48 Page:030006052095262
ISSN:0300-0605
Container-title:Journal of International Medical Research
language:en
Short-container-title:J Int Med Res

Author:

Li Yanfang¹²,Li Xiaoying³,Liu Xianghong³,Kang Lili³,Liu Xinjie²^ORCID

Affiliation:

1. Department of Neonatology, Qilu Children’s Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China

2. Department of Pediatrics, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China

3. Department of Neonatology, Qilu Children’s Hospital, Shandong University, Jinan, Shandong, China

Abstract

Mastocytosis is an accumulation of clonal mast cells within tissues and it is most commonly caused by an activating mutation in the KIT gene. 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.

Publisher

SAGE Publications

Subject

Biochemistry, medical,Cell Biology,Biochemistry,General Medicine

Link

http://journals.sagepub.com/doi/pdf/10.1177/0300060520952621

Reference26 articles.

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