Heterozygous prothrombin gene mutation associated with livedoid vasculopathy.
A 53-year-old woman presented with a chronic history of recurrent, painful ulcers, predominantly involving her lower legs. Both her clinical picture and histopathological findings were consistent with a diagnosis of livedoid vasculopathy, although she did have unusual findings of deep tender nodules and the presence of lesions over her elbows. Multiple investigations were undertaken, the only abnormality being a heterozygous mutation of the prothrombin G2021A gene. Although various coagulopathic states have been associated with livedoid vasculopathy, the finding of an associated prothrombin gene mutation is quite rare. Warfarin has ameliorated the clinical course when anti-inflammatory drugs and other anticoagulants were unhelpful.
Anavekar
Namrata S
NS
Department of Dermatology, St Vincent's Hospital, Melbourne, Victoria, Australia. namrata_anavekar@yahoo.com.au
Kelly
Robert
R
D000925:Anticoagulants; D005260:Female; D006579:Heterozygote; D006801:Humans; D007871:Leg Ulcer / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D017445:Skin Diseases, Vascular / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D014859:Warfarin / Q000627:therapeutic use
D000925:Anticoagulants; D014859:Warfarin; D011516:Prothrombin