RESUMEN

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.

Asunto(s)

Acrodermatitis/genética , Mutación , Deficiencia de Proteína C/genética , Proteína C/genética , Trombosis de la Vena/genética , Acrodermatitis/complicaciones , Acrodermatitis/patología , Adulto , Pueblo Asiatico , Mutación del Sistema de Lectura , Humanos , Masculino , Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína C/patología , Insuficiencia Venosa/complicaciones , Insuficiencia Venosa/genética , Insuficiencia Venosa/patología , Trombosis de la Vena/complicaciones , Trombosis de la Vena/patología