Alpha-1-antitrypsin deficiency-associated panniculitis: a case report

Dermatol Online J. 2014 Jan 15;20(1):21245.

Abstract

Panniculitis is a recognized, but rare complication of α1-antitrypsin (A1AT) deficiency. Less than 60 cases have been reported, mostly in the homozygous PiZZ variant. We report the case of a 55-year old woman with A1AT panniculitis associated with the heterozygous phenotype PiMS and discrete reduction of A1AT serum levels. In addition, the pathophysiology of the disease, clinical and histopathological features, and current treatment possibilities are briefly reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Biopsy
  • Colchicine / therapeutic use
  • Contraindications
  • Dapsone
  • Erythema / etiology
  • Female
  • Glucosephosphate Dehydrogenase Deficiency / complications
  • Heterozygote
  • Humans
  • Middle Aged
  • Panniculitis / etiology*
  • Panniculitis / pathology
  • alpha 1-Antitrypsin Deficiency / complications*
  • alpha 1-Antitrypsin Deficiency / diagnosis
  • alpha 1-Antitrypsin Deficiency / genetics
  • alpha 1-Antitrypsin Deficiency / physiopathology

Substances

  • Dapsone
  • Colchicine