Familial Chilblain Lupus - A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1

被引：44

作者：

Guenther, C. ^{[1
]}

Meurer, M. ^{[1
]}

Stein, A. ^{[1
]}

Viehweg, A. ^{[1
]}

Lee-Kirsch, M. A. ^{[2
]}

机构：

[1] Tech Univ Dresden, Univ Hosp Dermatol, DE-01307 Dresden, Germany

[2] Tech Univ Dresden, Univ Hosp Paediat & Adolescent Med, DE-01307 Dresden, Germany

来源：

DERMATOLOGY | 2009年 / 219卷 / 02期

关键词：

TREX1; gene; DNAse; Chilblain lupus; Lupus erythematosus; AICARDI-GOUTIERES-SYNDROME; DNA EXONUCLEASE TREX1; MEDIATED CELL-DEATH; MANIFESTATIONS; MUCINOSIS; COMPLEX;

D O I：

10.1159/000222430

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100227 [皮肤病学];

摘要：

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

引用

页码：162 / 166

页数：5

共 27 条

[1]

PARTIAL GENETIC DEFICIENCY OF THE C-4 COMPONENT OF COMPLEMENT IN DISCOID LUPUS-ERYTHEMATOSUS AND URTICARIA ANGIOEDEMA [J].

AGNELLO, V ;

GELL, J ;

TYE, MJ .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1983, 9 (06) :894-897

[2]

CHILBLAIN LUPUS-ERYTHEMATOSUS AND ANTIPHOSPHOLIPID ANTIBODY SYNDROME [J].

ALLEGUE, F ;

ALONSO, ML ;

ROCAMORA, A ;

LEDO, A .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1988, 19 (05) :908-910

[3]

Cutaneous lesions of the digits in systemic lupus erythematosus:: 50 cases [J].

Bouaziz, J. D. ;

Barete, S. ;

Le Pelletier, F. ;

Amoura, Z. ;

Piette, J. C. ;

Frances, C. .

LUPUS, 2007, 16 (03) :163-167

[4]

The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death [J].

Chowdhury, Dipanjan ;

Beresford, Paul J. ;

Zhu, Pengcheng ;

Zhang, Dong ;

Sung, Jung-Suk ;

Demple, Bruce ;

Perrino, Fred W. ;

Lieberman, Judy .

MOLECULAR CELL, 2006, 23 (01) :133-142

[5]

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus [J].

Crow, Yanick J. ;

Hayward, Bruce E. ;

Parmar, Rekha ;

Robins, Peter ;

Leitch, Andrea ;

Ali, Manir ;

Black, Deborah N. ;

van Bokhoven, Hans ;

Brunner, Han G. ;

Hamel, Ben C. ;

Corry, Peter C. ;

Cowan, Frances M. ;

Frints, Suzanne G. ;

Klepper, Joerg ;

Livingston, John H. ;

Lynch, Sally Ann ;

Massey, Roger F. ;

Meritet, Jean Francois ;

Michaud, Jacques L. ;

Ponsot, Gerard ;

Voit, Thomas ;

Lebon, Pierre ;

Bonthron, David T. ;

Jackson, Andrew P. ;

Barnes, Deborah E. ;

Lindahl, Tomas .

NATURE GENETICS, 2006, 38 (08) :917-920

[6]

Conserved extended haplotypes of the major histocompatibility complex: further characterization [J].

Dorak, M. T. ;

Shao, W. ;

Machulla, H. K. G. ;

Lobashevsky, E. S. ;

Tang, J. ;

Park, M. H. ;

Kaslow, R. A. .

GENES AND IMMUNITY, 2006, 7 (06) :450-467

[7]

CHILBLAIN LUPUS-ERYTHEMATOSUS - REPORT OF 15 CASES [J].

DOUTRE, MS ;

BEYLOT, C ;

BEYLOT, J ;

POMPOUGNAC, E ;

ROYER, P .

DERMATOLOGY, 1992, 184 (01) :26-28

[8]

Franceschini F, 1999, ADV EXP MED BIOL, V455, P167

[9]

Chilblain lupus erythematosus - a review of literature [J].

Hedrich, C. M. ;

Fiebig, B. ;

Hauck, F. H. ;

Sallmann, S. ;

Hahn, G. ;

Pfeiffer, C. ;

Heubner, G. ;

Gahr, M. .

CLINICAL RHEUMATOLOGY, 2008, 27 (08) :949-954

[10]

Cutaneous lupus mucinosis: a review of our cases and the possible pathogenesis [J].

Kanda, N ;

Tsuchida, T ;

Watanabe, T ;

Tamaki, K .

JOURNAL OF CUTANEOUS PATHOLOGY, 1997, 24 (09) :553-558

← 1 2 3 →