Alpha-1-antitrypsin deficiency panniculitis

Dermatol Clin. 2008 Oct;26(4):447-51, vi. doi: 10.1016/j.det.2008.05.001.

Abstract

Alpha-1-antitrypsin deficiency is a congenital error of metabolism linked to pulmonary (emphysema) and liver (cirrhosis) disease. Since 1972, panniculitis has been associated with this deficiency, initially related to Weber-Christian syndrome and finally as a differentiated entity. Clinical manifestations typically consist of wide nodular lesions on the trunk and proximal extremities that evolve to ulceration and drainage. Histopathologically it presents as a mixed septal-lobular panniculitis pattern with some typical findings referred. Differential diagnosis from other types of panniculitis and neutrophilic dermatosis must be established. Different treatments, including tetracyclines, dapsone, and alpha-1-antitrypsin repositioning, have shown variable efficacy in controlling this disease.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Panniculitis / diagnosis
  • Panniculitis / etiology*
  • Panniculitis / metabolism
  • Phenotype
  • Skin / pathology*
  • alpha 1-Antitrypsin / genetics
  • alpha 1-Antitrypsin / metabolism*
  • alpha 1-Antitrypsin Deficiency / complications*
  • alpha 1-Antitrypsin Deficiency / genetics
  • alpha 1-Antitrypsin Deficiency / metabolism

Substances

  • SERPINA1 protein, human
  • alpha 1-Antitrypsin