Alpha 1-antitrypsin deficiency-associated panniculitis: case report and review of the literature

Pediatr Dermatol. 1991 Dec;8(4):296-9. doi: 10.1111/j.1525-1470.1991.tb00937.x.

Abstract

Alpha 1-antitrypsin is the primary serum proteinase inhibitor. Alpha 1-antitrypsin deficiency, especially the ZZ genotype, has been linked mainly to emphysema and cirrhosis; it is also associated with paniculitis. A case of alpha 1-AT-associated panniculitis was documented in a 13-year-old girl in whom a deficiency of the enzyme was known to be present from infancy. This is unusual, since alpha 1-AT panniculitis previously was described in older patients without prior knowledge of the duration of the deficiency. Our patient developed erythematous, subcutaneous nodules subsequent to trauma, which later developed into deep, painless ulcers. We report this case so that the condition may be suspected in patients with panniculitis. The diagnosis may be confirmed by measuring quantitative alpha 1-AT serum levels and by enzyme genotyping. The treatment of choice is dapsone.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Female
  • Humans
  • Panniculitis / enzymology*
  • Panniculitis / pathology
  • alpha 1-Antitrypsin Deficiency*