|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2009-8-26
|
|
pubmed:abstractText |
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.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1421-9832
|
|
pubmed:author |
|
|
pubmed:copyrightInfo |
Copyright 2009 S. Karger AG, Basel.
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
219
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
162-6
|
|
pubmed:meshHeading |
pubmed-meshheading:19478477-Adolescent,
pubmed-meshheading:19478477-Aspirin,
pubmed-meshheading:19478477-Biopsy, Needle,
pubmed-meshheading:19478477-Chronic Disease,
pubmed-meshheading:19478477-Disease Progression,
pubmed-meshheading:19478477-Drug Therapy, Combination,
pubmed-meshheading:19478477-Exodeoxyribonucleases,
pubmed-meshheading:19478477-Female,
pubmed-meshheading:19478477-Fluorescent Antibody Technique, Direct,
pubmed-meshheading:19478477-Follow-Up Studies,
pubmed-meshheading:19478477-Gene Expression Regulation,
pubmed-meshheading:19478477-Genetic Predisposition to Disease,
pubmed-meshheading:19478477-Humans,
pubmed-meshheading:19478477-Hydroxychloroquine,
pubmed-meshheading:19478477-Immunohistochemistry,
pubmed-meshheading:19478477-Lupus Erythematosus, Cutaneous,
pubmed-meshheading:19478477-Mutation,
pubmed-meshheading:19478477-Phosphoproteins,
pubmed-meshheading:19478477-Rare Diseases,
pubmed-meshheading:19478477-Risk Assessment,
pubmed-meshheading:19478477-Severity of Illness Index,
pubmed-meshheading:19478477-Treatment Outcome
|
|
pubmed:year |
2009
|
|
pubmed:articleTitle |
Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.
|
|
pubmed:affiliation |
University Hospital for Dermatology, Technical University Dresden, Dresden, Germany. claudia.guenther@uniklinikum-dresden.de
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
