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两名印度患者的常染色体隐性先天性鱼鳞病（ARCI）的泳衣型

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients.

作者信息

Sathishkumar Dharshini, Peter Dincy, Pulimood Susanne, Wiegmann Henning, Valentin Frederic, Thomas Meera, Hennies Hans Christian, Oji Vinzenz

机构信息

Department of Dermatology Venereology and Leprosy, Christian Medical College, Vellore, India.

Department of Dermatology, University Hospital Muenster, Muenster, Germany.

出版信息

Case Rep Dermatol Med. 2018 Dec 30;2018:3140473. doi: 10.1155/2018/3140473. eCollection 2018.

DOI:10.1155/2018/3140473
PMID:30693114
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6332984/
Abstract

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene () mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the "bathing suit" areas. We report two Indian girls with bathing suit ichthyosis and mutations in (patient 1: homozygous for c.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).

摘要

泳衣性鱼鳞病（BSI）是常染色体隐性先天性鱼鳞病（ARCI）的一种罕见变异型，由转谷氨酰胺酶-1基因（）突变导致温度敏感型表型。其特征为局限于“泳衣”部位的深灰色或褐色鳞屑。我们报告了两名患有泳衣性鱼鳞病且基因（患者1：c.1147G>A纯合子；患者2：c.832G>A、c.919C>G复合杂合子）存在突变的印度女孩。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee5b/6332984/ae7a461b7f84/CRIDM2018-3140473.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee5b/6332984/0c31ef1933ca/CRIDM2018-3140473.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee5b/6332984/d9bc48697bff/CRIDM2018-3140473.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee5b/6332984/ae7a461b7f84/CRIDM2018-3140473.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee5b/6332984/0c31ef1933ca/CRIDM2018-3140473.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee5b/6332984/d9bc48697bff/CRIDM2018-3140473.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee5b/6332984/ae7a461b7f84/CRIDM2018-3140473.003.jpg

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本文引用的文献

1
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.扩大泳衣鱼鳞病的基因型谱。
JAMA Dermatol. 2017 Jun 1;153(6):537-543. doi: 10.1001/jamadermatol.2017.0202.
2
Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.一名突尼斯儿童因TGM1基因突变导致的泳衣鱼鳞病。
Int J Dermatol. 2014 Dec;53(12):1478-80. doi: 10.1111/ijd.12569. Epub 2014 Sep 10.
3
Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis.
泳衣型和自我改善型板层状鱼鳞病的特异性转谷氨酰胺酶1（TGM1）突变谱：来自9例常染色体隐性先天性鱼鳞病动态表型患者的表型和基因型数据
Arch Dermatol. 2012 Oct;148(10):1191-5. doi: 10.1001/archdermatol.2012.1947.
4
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.遗传性鱼鳞病的修订命名和分类：2009 年索雷兹第一次鱼鳞病共识会议的结果。
J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020.
5
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.与转谷氨酰胺酶1（TGM1）的基因型-表型相关性：板层状鱼鳞病的泳衣样鱼鳞病和自愈性胶样婴儿变异型中的突变聚类
Br J Dermatol. 2010 Feb 1;162(2):448-51. doi: 10.1111/j.1365-2133.2009.09537.x. Epub 2009 Oct 26.
6
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.南非“泳衣鱼鳞病”是板层状鱼鳞病的一种形式，由转谷氨酰胺酶1中的纯合错义突变p.R315L引起。
J Invest Dermatol. 2007 Feb;127(2):490-3. doi: 10.1038/sj.jid.5700550. Epub 2006 Sep 14.
7
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.泳衣鱼鳞病由转谷氨酰胺酶-1缺乏引起：温度敏感表型的证据。
Hum Mol Genet. 2006 Nov 1;15(21):3083-97. doi: 10.1093/hmg/ddl249. Epub 2006 Sep 12.
8
Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks.
Eur J Dermatol. 2005 Nov-Dec;15(6):433-6.