Acroangiodermatitis of Mali in protein C deficiency due to a novel PROC gene mutation

Am J Dermatopathol. 2012 Apr;34(2):e19-21. doi: 10.1097/DAD.0b013e3182169528.

Abstract

Acroangiodermatitis of Mali is a dermatologic condition of kaposiform skin lesions that has been associated with chronic venous insufficiency. Here we report a case of a 28-year-old Chinese man with acroangiodermatitis which co-existed with chronic lower limb deep vein thrombosis. Investigations revealed protein C deficiency and a frame shift mutation, c246_247dupCT, of the PROC gene. Our report lengthens the list of male acroangiodermatitis of Mali cases with a Chinese patient harboring a novel PROC mutation with manifest protein C deficiency.

Publication types

  • Case Reports

MeSH terms

  • Acrodermatitis / complications
  • Acrodermatitis / genetics*
  • Acrodermatitis / pathology
  • Adult
  • Asian People
  • Frameshift Mutation
  • Humans
  • Male
  • Mutation*
  • Protein C / genetics*
  • Protein C Deficiency / complications
  • Protein C Deficiency / genetics*
  • Protein C Deficiency / pathology
  • Venous Insufficiency / complications
  • Venous Insufficiency / genetics
  • Venous Insufficiency / pathology
  • Venous Thrombosis / complications
  • Venous Thrombosis / genetics*
  • Venous Thrombosis / pathology

Substances

  • Protein C

Supplementary concepts

  • Congenital thrombotic disease, due to Protein C deficiency