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Homozygous Protein C Deficiency (homozygous + protein_c_deficiency)

Distribution by Scientific Domains
Medical Sciences100%

Selected Abstracts

Recurrent Vasculopathic Skin Lesions Associated with Homozygous Protein C Deficiency

PEDIATRIC DERMATOLOGY, Issue 1 2007
Pinar Isik Agras M.D.
Vasculopathy associated with hypercoagulable state in protein C deficiency has also been reported rarely. We described a boy who was diagnosed as having homozygous protein C deficiency during the neonatal period, when he developed purpura fulminans. At 7 years of age, he developed recurrent, painful, nonscarring, purpuric skin lesions. Histopathologic skin findings were compatible with those of vasculopathy. The histopathologic characteristics of these vasculopathic lesions and the pathogenetic mechanisms of their association with protein C deficiency are discussed. [source]

Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation

PEDIATRIC TRANSPLANTATION, Issue 2 2009
Mee Jeong Lee
Abstract:, Homozygous protein C deficiency is an autosomal recessive disorder often presenting with purpura fulminans. Fresh frozen plasma and oral anticoagulation have been used in the treatment of this disease. Lately, protein C concentrate has become the treatment of choice. However, protein C concentrate is not yet widely available in many countries. We report a six-month-old girl with homozygous protein C deficiency who had suffered from frequent thrombotic episodes. She was successfully treated with living donor liver transplantation. Eight years after the transplantation, she remains symptom free. As described here, the liver transplantation offers an alternative curative treatment for children with homozygous protein C deficiency. [source]

Recurrent Vasculopathic Skin Lesions Associated with Homozygous Protein C Deficiency

PEDIATRIC DERMATOLOGY, Issue 1 2007
Pinar Isik Agras M.D.
Vasculopathy associated with hypercoagulable state in protein C deficiency has also been reported rarely. We described a boy who was diagnosed as having homozygous protein C deficiency during the neonatal period, when he developed purpura fulminans. At 7 years of age, he developed recurrent, painful, nonscarring, purpuric skin lesions. Histopathologic skin findings were compatible with those of vasculopathy. The histopathologic characteristics of these vasculopathic lesions and the pathogenetic mechanisms of their association with protein C deficiency are discussed. [source]

Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation

PEDIATRIC TRANSPLANTATION, Issue 2 2009
Mee Jeong Lee
Abstract:, Homozygous protein C deficiency is an autosomal recessive disorder often presenting with purpura fulminans. Fresh frozen plasma and oral anticoagulation have been used in the treatment of this disease. Lately, protein C concentrate has become the treatment of choice. However, protein C concentrate is not yet widely available in many countries. We report a six-month-old girl with homozygous protein C deficiency who had suffered from frequent thrombotic episodes. She was successfully treated with living donor liver transplantation. Eight years after the transplantation, she remains symptom free. As described here, the liver transplantation offers an alternative curative treatment for children with homozygous protein C deficiency. [source]