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Case Reports in Dermatological Medicine
Volume 2017, Article ID 8915608, 3 pages
https://doi.org/10.1155/2017/8915608
Case Report

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

1Department of Pediatrics, Tawam Hospital, P.O. Box 15258, Al-Ain, UAE
2Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, P.O. Box 15258, Al-Ain, UAE

Correspondence should be addressed to Ayman W. El-Hattab; moc.oohay@wabattahle

Received 8 June 2017; Accepted 20 August 2017; Published 26 September 2017

Academic Editor: Alireza Firooz

Copyright © 2017 Mariam S. Al Harbi and Ayman W. El-Hattab. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.