A Mutation in Acroangiodermatitis (Pseudo-Kaposi) (For Professionals)

A Mutation in Acroangiodermatitis (Pseudo-Kaposi) (For Professionals)

“Abstract: Acroangiodermatitis of Mali is a dermatologic condition of kaposiform skin lesions that has been associated with chronic venous insufficiency. We report a case of a 28 year-old Chinese man with acroangiodermatitis which coexisted with chronic lower limb deep vein thrombosis. Investigations revealed protein C deficiency and a frame shift mutation, c246_247dupTC, of the PROC gene. The report lengthens the list of male Acroangiodermatitis of Mali cases with a Chinese patient harboring a novel PROC mutation with manifest protein C deficiency.”

Contributors:

Dr Christophe HSU – dermatologist. Geneva, Switzerland

Source: Aaron WM Tan, Joyce SS Lee, Zacaharias AD Pramono, Wei Sheng Chong. Acroangiodermatitis of Mali in Protein C deficiency due to a novel PROC Gene Mutation.