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


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.


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



Aicardi–Goutières syndrome


body mass index


complement factor 3


chilblain lupus erythematosus


cutaneous lupus erythematosus


discoid lupus erythematosus


double-stranded DNA


heat shock protein 70




immunoglobulin A


immunoglobulin M


La/SSB antigen


lupus erythematosus


magnetic resonance imaging




Ro/SSB antigen


systemic lupus erythematosus


Sm antigen


single-stranded DNA


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



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


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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