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abstractpubmed· Abstract 2016· item PMID:27889735
A Novel Protein C Mutation Causing Neonatal Purpura Fulminans. BACKGROUND: Neonatal purpura fulminans due to congenital protein C deficiency is a rare disorder. CASE CHARACTERISTICS: A four-day-old neonate presented with multiple necrotic skin lesions with abnormal coagulation profile. INTERVENTION AND OUTCOME: Skin lesions responded to repeated plasma transfusions but the neonate developed bilateral retinal detachment. A novel homozygous PROC gene mutation was noted in the neonate. MESSAGE: Molecular diagnosis and prenatal counseling in neonatal purpura fulminans are vital considering the poor outcome.