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

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...

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Autores principales: Li, Yanfang, Li, Xiaoying, Liu, Xianghong, Kang, Lili, Liu, Xinjie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479863/
https://www.ncbi.nlm.nih.gov/pubmed/32883129
http://dx.doi.org/10.1177/0300060520952621
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author Li, Yanfang
Li, Xiaoying
Liu, Xianghong
Kang, Lili
Liu, Xinjie
author_facet Li, Yanfang
Li, Xiaoying
Liu, Xianghong
Kang, Lili
Liu, Xinjie
author_sort Li, Yanfang
collection PubMed
description 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.
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spelling pubmed-74798632020-09-17 Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review Li, Yanfang Li, Xiaoying Liu, Xianghong Kang, Lili Liu, Xinjie J Int Med Res Case Report 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. SAGE Publications 2020-09-04 /pmc/articles/PMC7479863/ /pubmed/32883129 http://dx.doi.org/10.1177/0300060520952621 Text en © The Author(s) 2020 https://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Li, Yanfang
Li, Xiaoying
Liu, Xianghong
Kang, Lili
Liu, Xinjie
Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review
title Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review
title_full Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review
title_fullStr Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review
title_full_unstemmed Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review
title_short Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review
title_sort genotypic and phenotypic characteristics of chinese neonates with cutaneous mastocytosis: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479863/
https://www.ncbi.nlm.nih.gov/pubmed/32883129
http://dx.doi.org/10.1177/0300060520952621
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AT liuxianghong genotypicandphenotypiccharacteristicsofchineseneonateswithcutaneousmastocytosisacasereportandliteraturereview
AT kanglili genotypicandphenotypiccharacteristicsofchineseneonateswithcutaneousmastocytosisacasereportandliteraturereview
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