title: Acroangiodermatitis of Mali in protein C deficiency due to a novel PROC gene mutation.
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.
authors.affiliation: National Skin Centre, Singapore
authors.forename: Aaron
authors.initials: A
authors.lastname: Wei-Min Tan
authors.forename: Joyce Siong-See
authors.initials: JS
authors.lastname: Lee
authors.forename: Zacharias A D
authors.initials: ZA
authors.lastname: Pramono
authors.forename: Wei-Sheng
authors.initials: WS
authors.lastname: Chong
mesh_terms: D000169:Acrodermatitis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000328:Adult; D044466:Asian People; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D009154:Mutation; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014689:Venous Insufficiency / Q000150:complications / Q000235:genetics / Q000473:pathology; D020246:Venous Thrombosis / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D011486:Protein C