Chronic disseminated intravascular coagulation and childhood-onset skin necrosis resulting from homozygosity for a protein C Gla domain mutation, Arg15Trp.

Abstract

A toddler of Haitian descent presented with an 18-month history of chronic consumption coagulopathy, followed by catastrophic skin necrosis. Protein C deficiency (1% to 3% of control) was noted by functional assay; chromogenic assay and antigen levels were 30% of control. Plasma infusion abrogated the disseminated intravascular coagulation-like state. The authors identified a homozygous mutation, C1432T, resulting in a missense, Arg15Trp, in the gamma-carboxyglutamate domain of the protein. Chronic consumption coagulopathy without purpura fulminans or venous thrombosis is a rare presentation of defective protein C pathway. The result of this mutation is a mixed type I (low antigen) and type II (low function) phenotype.

• Authors: Mara Steinkamp, Alon Geva, Steven Joffe, Catherine N Lapp, Ellis J Neufeld
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 24 Issue 8 Pg. 685-8 (Nov 2002) ISSN: 1077-4114 [Print] United States
• PMID: 12439046 (Publication Type: Case Reports, Journal Article)

Chemical References

• Protein C

Topics

• Amino Acid Sequence
• Amino Acid Substitution
• Blood Component Transfusion
• Chronic Disease
• Debridement
• Disseminated Intravascular Coagulation (etiology, therapy)
• Female
• Hemorrhage (etiology)
• Homozygote
• Humans
• Infant
• Molecular Sequence Data
• Mutation, Missense
• Necrosis
• Phenotype
• Plasma
• Point Mutation
• Polymorphism, Restriction Fragment Length
• Protein C (genetics)
• Protein C Deficiency (blood, classification, complications, genetics, pathology)
• Protein Structure, Tertiary (genetics)
• Skin (blood supply, pathology)
• Skin Transplantation