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Article

Chilblain lupus erythematosus--a review of literature.

Clinical rheumatology - 1 Aug 2008

Hedrich C M, Fiebig B, Hauck F H, Sallmann S, Hahn G, Pfeiffer C, Heubner G, Lee-Kirsch Min Ae, Gahr M

Abstract excerpt

Chilblain lupus erythematosus (CHLE) is a rare, chronic form of cutaneous lupus erythematosus. Sporadic cases and two families with autosomal dominant-inherited CHLE have been reported. In familial CHLE, two missense mutations in TREX1 encoding the 3'-5' repair exonuclease 1 were described in affected individuals. The pathogenesis of sporadic CHLE remains unknown. Up to 20% of patients develop systemic lupus...

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Source

Identifiers

PMID: 18543054
DOI: 10.1007/s10067-008-0942-9

Genes

TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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