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Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel mutation.

作者信息

Nagaputra Jerry C, Koh Mark J A, Brett Maggie, Lim Eileen C P, Lim Hwee-Woon, Tan Ene-Choo

机构信息

Dermatology Service, KK Women's & Children's Hospital, Singapore.

Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.

出版信息

JAAD Case Rep. 2018 Mar 31;4(4):318-321. doi: 10.1016/j.jdcr.2017.10.005. eCollection 2018 May.

DOI:10.1016/j.jdcr.2017.10.005
PMID:29693058
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5911795/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249a/5911795/0145f25f8120/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249a/5911795/367a95fabc47/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249a/5911795/0145f25f8120/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249a/5911795/367a95fabc47/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249a/5911795/0145f25f8120/gr2.jpg

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引用本文的文献

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Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.导致斑驳病并伴有多个咖啡牛奶斑样斑疹和雀斑的基因突变：阐明这种共存现象的一个原因。
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本文引用的文献

1
A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.一个中国家庭中导致斑驳病的新型错义KIT突变，伴有咖啡斑和间擦部位雀斑。
Ther Clin Risk Manag. 2015 Apr 21;11:635-8. doi: 10.2147/TCRM.S75544. eCollection 2015.
2
Novel mutations of KIT gene in two Korean patients: variegated shades of phenotypes in tyrosine kinase 1 domain.两名韩国患者中KIT基因的新突变：酪氨酸激酶1结构域中多样的表型。
J Dermatol Sci. 2014 Oct;76(1):74-6. doi: 10.1016/j.jdermsci.2014.07.009. Epub 2014 Aug 7.
3
SNAI2 mutation causes human piebaldism.
Am J Med Genet A. 2014 Mar;164A(3):855-7. doi: 10.1002/ajmg.a.36332. Epub 2014 Jan 17.
4
Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1).斑驳病、多发性咖啡牛奶斑和间擦疹部位雀斑的关联：KIT与含sprouty相关、ena/血管舒张刺激磷蛋白同源结构域蛋白1（SPRED1）之间共同通路的临床证据。
Pediatr Dermatol. 2013 May-Jun;30(3):379-82. doi: 10.1111/j.1525-1470.2012.01858.x. Epub 2012 Sep 28.
5
wANNOVAR: annotating genetic variants for personal genomes via the web.wANNOVAR：通过网络为个人基因组注释遗传变异。
J Med Genet. 2012 Jul;49(7):433-6. doi: 10.1136/jmedgenet-2012-100918. Epub 2012 Jun 20.
6
Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.咖啡牛奶斑和交界部位雀斑样痣在斑驳病中的表现：与神经纤维瘤病 1 型和 Legius 综合征的临床重叠。
Am J Med Genet A. 2012 May;158A(5):1195-9. doi: 10.1002/ajmg.a.35297. Epub 2012 Mar 21.
7
Piebaldism and neurofibromatosis type 1: family report.
Dermatol Online J. 2010 Jan 15;16(1):11.
8
Deletion of the SLUG (SNAI2) gene results in human piebaldism.SLUG（SNAI2）基因的缺失会导致人类斑驳病。
Am J Med Genet A. 2003 Oct 1;122A(2):125-32. doi: 10.1002/ajmg.a.20345.
9
Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.人类斑驳病中KIT（肥大/干细胞生长因子受体）原癌基因的新突变。
J Invest Dermatol. 1993 Jul;101(1):22-5. doi: 10.1111/1523-1747.ep12358440.
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