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Protein C is an anticoagulant that is encoded by the  PROC  gene. Protein C deficiency (PCD) is inherited in an autosomal dominant or recessive pattern. Autosomal dominant PCD is caused by monoallelic mutations in  PROC  and often presents with venous thromboembolism. On the other hand, biallelic  PROC  mutations lead to autosomal recessive PCD which is a more severe disease that typically presents in neonates as purpura fulminans. In this report, we describe an 8-month-old infant with autosomal recessive PCD who presented with multiple lumps on his lower extremities at the age of 2 months and later developed purpura fulminans after obtaining a muscle biopsy from the thigh at the age of 5 months. Protein C level was less than 10% and  PROC  gene sequencing identified a novel homozygous missense mutation, c.1198G>A (p.Gly400Ser). Autosomal recessive PCD typically presents with neonatal purpura fulminans which is often fatal if not recognized and treated early. Therefore, early recognition is critical in preventing morbidity and mortality associated with autosomal recessive PCD.

Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans