Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans
Joint Authors
Al Harbi, Mariam S.
El-Hattab, Ayman W.
Source
Case Reports in Dermatological Medicine
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-09-26
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Al Harbi, Mariam S.& El-Hattab, Ayman W.. 2017. Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans. Case Reports in Dermatological Medicine،Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1145017
Modern Language Association (MLA)
Al Harbi, Mariam S.& El-Hattab, Ayman W.. Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans. Case Reports in Dermatological Medicine No. 2017 (2017), pp.1-3.
https://search.emarefa.net/detail/BIM-1145017
American Medical Association (AMA)
Al Harbi, Mariam S.& El-Hattab, Ayman W.. Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans. Case Reports in Dermatological Medicine. 2017. Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1145017
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145017