Familial Chilblain Lupus - A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1
Familial Chilblain Lupus - A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1
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DOI：
10.1159/000222430
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发表时间：
2009-01-01
期刊：
影响因子：
3.4
通讯作者：
Lee-Kirsch, M. A.
中科院分区：
文献类型：
--
作者：
Guenther, C.;Meurer, M.;Lee-Kirsch, M. A.
冻疮性红斑狼疮是一种罕见的皮肤红斑狼疮，其特征是身体肢端部位的蓝红色浸润，主要影响中年妇女。我们最近描述了一种家族性的冻疮狼疮，表现在儿童早期，由TREX 1基因的杂合突变引起，该基因编码3 '-5' DNA核酸外切酶。因此，家族性冻疮型狼疮是第一个单基因型皮肤红斑狼疮。在这里，我们描述了不寻常的临床过程中，这种新定义的遗传性皮肤病在一个18岁的女性成员的家庭，其中家族性冻疮狼疮最初被描述。版权所有（C）2009 S. Karger AG，巴塞尔
Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3'-5' DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in which familial chilblain lupus was originally described. Copyright (C) 2009 S. Karger AG, Basel