Late Onset of Clinical Symptoms and Recurrent Ecchymotic Skin Lesions in a 12-Year-Old Girl With a Severe Double Heterozygous Protein C Deficiency

2004 ◽  
Vol 26 (1) ◽  
pp. 2-4 ◽  
Author(s):  
Mich??le Loop ◽  
Alina Ferster ◽  
Francis Corazza ◽  
Martine Alhenc-Gelas ◽  
Anne Demulder
Keyword(s):  
Protein C ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Skin Lesions ◽  
Protein C Deficiency ◽  
Heterozygous Protein C Deficiency

scholarly journals Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis

2014 ◽  
Vol 13 (2) ◽  
pp. 2969-2977 ◽  
Author(s):  
L.-H. Yang ◽  
M.-S. Wang ◽  
F.-X. Zheng ◽  
J. Li ◽  
Y. Chen ◽  
...  
Keyword(s):  
Protein C ◽  
Late Onset ◽  
Compound Heterozygous ◽  
Protein C Deficiency ◽  
Heterozygous Protein C Deficiency

Severe Inherited “Homozygous” Protein C Deficiency in a Newborn Infant

1984 ◽  
Vol 52 (01) ◽  
pp. 053-056 ◽  
Author(s):  
A Estellés ◽  
I Garcia-Plaza ◽  
A Dasí ◽  
J Aznar ◽  
M Duart ◽  
...  
Keyword(s):  
Newborn Infant ◽  
Protein C ◽  
Skin Lesions ◽  
Fresh Frozen Plasma ◽  
Clinical Syndrome ◽  
Assay Method ◽  
Enzyme Linked Immunosorbent Assay ◽  
Protein C Deficiency ◽  
Fresh Frozen ◽  
Frozen Plasma

SummaryA relapsing clinical syndrome of skin lesions and disseminated intravascular coagulation (DIC) that showed remission with the infusion of fresh frozen plasma is described in a newborn infant with homozygous deficiency of protein C antigen.This patient presented since birth a recurrent clinical picture of DIC and ecchymotic skin lesions that resembled typical ecchymosis except for the fact that they showed immediate improvement with the administration of fresh frozen plasma. Using an enzyme linked immunosorbent assay method, the determination of protein C antigen levels in the patient, without ingestion of coumarin drugs, showed very low values (<1%).No other deficiencies in the vitamin-K-dependent factors or in anti thrombin III, antiplasmin, and plasminogen were found. Seven relatives of the infant had heterozygous deficiency in protein C antigen (values between 40-55%), without clinical history of venous thrombosis. The pedigree analysis of this family suggests an autosomal recessive pattern of inheritance for the clinical phenotype, although an autosomal dominant pattern has been postulated until now in other reported families.We conclude that our patient has a homozygous deficiency in protein C and this homozygous state may be compatible with survival beyond the neonatal period.

Purpura fulminans skin lesions in a newborn with complete protein C deficiency

1998 ◽  
Vol 132 (3) ◽  
pp. 558 ◽  
Author(s):  
Gideon Paret ◽  
Asher Barzilai ◽  
Zohar Barzilay
Keyword(s):  
Protein C ◽  
Purpura Fulminans ◽  
Skin Lesions ◽  
Protein C Deficiency ◽  
Complete Protein

scholarly journals Late-Onset Homozygous Protein C Deficiency Manifesting Cerebral Infarction as the First Symptom at Age 27.

1992 ◽  
Vol 31 (7) ◽  
pp. 922-925 ◽  
Author(s):  
Katsumi DEGUCHI ◽  
Tetsuya TSUKADA ◽  
Eiichi IWASAKI ◽  
Hideo WADA ◽  
Seiko MURASHIMA ◽  
...  
Keyword(s):  
Cerebral Infarction ◽  
Protein C ◽  
Late Onset ◽  
Protein C Deficiency

scholarly journals Probable Dysfunctional Protein S in a Patient with Congenital Heterozygous Protein C Deficiency

1991 ◽  
Vol 2 (6) ◽  
pp. 518-523 ◽  
Author(s):  
Toshiyuki SAKATA ◽  
Nobuko TSUSHIMA ◽  
Kaoru HATANAKA ◽  
Takashi MORISHITA ◽  
Hiroyuki HATSUYAMA ◽  
...  
Keyword(s):  
Protein C ◽  
Protein S ◽  
Protein C Deficiency ◽  
Heterozygous Protein C Deficiency

Heterozygous protein C deficiency and dysfibrinogenemia acquired by liver transplantation

1995 ◽  
Vol 8 (4) ◽  
pp. 307-311 ◽  
Author(s):  
M. Cransac ◽  
J. Carles ◽  
P.-H. Bernard ◽  
P. Malavialle ◽  
G. Freyburger ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Protein C ◽  
Protein C Deficiency ◽  
Heterozygous Protein C Deficiency

Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis

The Lancet ◽  
1992 ◽  
Vol 339 (8795) ◽  
pp. 743-744 ◽  
Author(s):  
J. Conard ◽  
M.H. Horellou ◽  
P. Van Dreden ◽  
M. Samama ◽  
P.H. Reitsma ◽  
...  
Keyword(s):  
Skin Necrosis ◽  
Protein C ◽  
Late Onset ◽  
Protein C Deficiency

Recurrent Vasculopathic Skin Lesions Associated with Homozygous Protein C Deficiency

2007 ◽  
Vol 24 (1) ◽  
pp. 57-60 ◽  
Author(s):  
Pinar Isik Agras ◽  
Handan Ozdemir ◽  
Esra Baskin ◽  
Namik Ozbek
Keyword(s):  
Protein C ◽  
Skin Lesions ◽  
Protein C Deficiency
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