期刊
DERMATOLOGY
卷 219, 期 2, 页码 162-166出版社
KARGER
DOI: 10.1159/000222430
关键词
TREX1 gene; DNAse; Chilblain lupus; Lupus erythematosus
类别
资金
- MeDDrive [2009]
- DFG [1074/3-1]
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
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