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Clinical Rheumatology

, Volume 27, Issue 8, pp 949–954 | Cite as

Chilblain lupus erythematosus—a review of literature

  • C. M. HedrichEmail author
  • B. Fiebig
  • F. H. Hauck
  • S. Sallmann
  • G. Hahn
  • C. Pfeiffer
  • G. Heubner
  • M. Gahr
Review Article

Abstract

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 erythematosus (SLE). An association with anorexia is discussed. In many cases, there is good response to symptomatic therapy. SLE therapeutics have good effects on SLE-typical symptoms but not on chilblains themselves. This article reviews the clinical presentation, pathogenesis, diagnosis and treatment of CHLE. As an index patient with unique features, we report a 13-year-old boy developing CHLE after anorexia nervosa. Sequencing of TREX1 was normal. With psychotherapeutic support for anorexia and after antibiotic therapy, topical steroids, physical warming and calcium channel blockers, the patient experienced significant relief. Improvement of phalangeal perfusion was demonstrated by angio-MRI.

Keywords

Chilblain lupus erythematosus Cutaneous lupus erythematosus Lupus therapy Phalangeal vasoconstriction Raynaud’s syndrome 

Abbreviations

AGS

Aicardi–Goutières syndrome

BMI

body mass index

C3

complement factor 3

CHLE

chilblain lupus erythematosus

CLE

cutaneous lupus erythematosus

DLE

discoid lupus erythematosus

ds-DNA

double-stranded DNA

Hsp70

heat shock protein 70

Ig

immunoglobulin

IgA

immunoglobulin A

IgM

immunoglobulin M

La/SSB

La/SSB antigen

LE

lupus erythematosus

MRI

magnetic resonance imaging

RNP

ribonucleoproteins

Ro/SSA

Ro/SSB antigen

SLE

systemic lupus erythematosus

Sm

Sm antigen

ss-DNA

single-stranded DNA

TREX1

3′–5′repair exonuclease 1, synonym DNAse III

Notes

Acknowledgements

We thank Dr. Min Ae Lee-Kirsch for the genomic sequencing of the TREX1 gene and the helpful discussion.

Disclosures

No potential conflict of interest relevant to this article were reported by any of the authors (C.M. Hedrich, B. Fiebig, F.H. Hauck, S. Sallmann, G. Hahn, C. Pfeiffer, G. Heubner, M. Gahr).

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Copyright information

© Clinical Rheumatology 2008

Authors and Affiliations

  • C. M. Hedrich
    • 1
    Email author
  • B. Fiebig
    • 1
  • F. H. Hauck
    • 1
  • S. Sallmann
    • 1
  • G. Hahn
    • 2
  • C. Pfeiffer
    • 3
  • G. Heubner
    • 4
  • M. Gahr
    • 1
  1. 1.Department of Pediatric Rheumatology and ImmunologyUniversity Children’s Hospital Dresden, University Hospital “Carl Gustav Carus”, Technical University DresdenDresdenGermany
  2. 2.Department of RadiologyUniversity Hospital “Carl Gustav Carus”, Technical University DresdenDresdenGermany
  3. 3.Department of Dermatology and AllergologyUniversity Medical Center UlmUlmGermany
  4. 4.Children’s Hospital FreitalFreitalGermany

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