Digital skin necrosis in congenital afibrinogenaemia associated with hepatitis C virus infection, mixed cryoglobulinaemia and anticardiolipin antibodies.
Congenital afibrinogenaemia is a rare genetic disorder transmitted as an autosomal recessive trait and characterized by the complete absence of fibrinogen in the plasma. We report a 41-year-old woman who suffered from congenital afibrinogenaemia and hepatitis C viral infection and presented with ischaemic necrosis and livedo of the toes. Laboratory investigations showed the presence of mixed cryoglobulinaemia and anticardiolipin antibodies. Resolution occurred with plasmapheresis. We discuss the pathophysiology of this unusual condition and review the literature for skin manifestations associated with this rare haemostasis disorder.
Girard
Céline
C
Service de Dermatologie, CHU, Montpellier, France.
Guillot
Bernard
B
Biron
Christine
C
Lavabre-Bertrand
Thierry
T
Navarro
Robert
R
Bessis
Didier
D
D000328:Adult; D000347:Afibrinogenemia / Q000150:complications* / Q000151:congenital / Q000276:immunology; D017153:Antibodies, Anticardiolipin / Q000097:blood*; D003449:Cryoglobulinemia / Q000150:complications* / Q000276:immunology / Q000628:therapy; D005260:Female; D019698:Hepatitis C, Chronic / Q000150:complications* / Q000276:immunology; D006801:Humans; D009336:Necrosis; D010956:Plasmapheresis; D014034:Toes / Q000473:pathology*
D017153:Antibodies, Anticardiolipin