Idiopathic purpura fulminans with transient protein S deficiency

Idiopathic purpura fulminans produces rapidly progressive hemorrhagic necrosis of the skin with disseminated intravascular coagulation in individuals without known abnormalities of the protein C pathway or acute infections. The disease mainly affects children and in 90 % of cases is preceded by a benign infection. Its pathogenesis involves a temporary autoimmune protein S deficiency that provokes a state of hypercoagulability. We present the case of a previously healthy 2-year-old boy with hemorrhagic skin lesions characteristic of purpura fulminans and disseminated intravascular coagulation without sepsis. Severe, temporary protein S deficiency was confirmed. The patient received daily replacement therapy with fresh frozen plasma for 12 days and anticoagulation with heparin for 3 months. Evolution was favorable. Although the other parameters returned to normal, protein S remained low for 50 days despite treatment. The patient has made a complete recovery.     

Neonatal purpura fulminans due to homozygous protein C deficiency

Severe and recurrent purpura fulminans developed in a Turkish boy at 1 week of age. Initial coagulation studies performed were compatible with disseminated intravascular coagulation. Subsequent investigations showed that the patient had homozygous and his healthy parents had heterozygous protein C deficiency. The episodes of purpura fulminans were controlled by infusions of fresh frozen plasma and heparinization. Oral anticoagulant therapy was given in the symptom-free period.     

Management of neonatal purpura fulminans with severe protein C deficiency

Neonatal purpura fulminans is a life threatening clinical entity characterized by extensive subcutaneous thrombosis and disseminated intravascular coagulation usually manifesting shortly after birth. We report an autosomal recessive form of the disease in a neonate who was diagnosed with compound heterozygosity for mutations in his protein C gene as the molecular basis of his disorder.     

Purpura fulminans in a case of protein C deficiency

We report a case of protein C deficiency which presented with purpura fulminans. The inheritance of protein C deficiency is discussed and the importance of warfarin (Coumadin) treatment in this condition is emphasized.Abbreviations DIC disseminated intravascular coagulation - PT prothrombin time     

Activated protein C concentrate reverses purpura fulminans in severe genetic protein C deficiency

Severe genetic protein C deficiency is rare and is associated with severe, often fatal thrombosis. The authors report the use of recombinant activated protein C (APC) to treat an episode of purpura fulminans (PF) in a teenage girl with severe protein C deficiency who had developed anaphylaxis to fresh-frozen plasma that was given in the past to treat recurrent episodes of PF. Concomitant with an infusion of APC, 20 microg/kg/h for 10 hours, a d-dimer level that was markedly positive (6,450 ng/mL) prior to the onset of PF decreased to 847 ng/mL following the APC. The teenager was treated with heparin along with warfarin for four days until the INR was more than 3.5 and the d-dimer level was less than 230 ng/mL. At the end of the APC infusion all skin lesions of PF were resolved. There were no adverse reactions to APC. APC was safe and effective for treatment of PF in severe genetic protein C deficiency.     

A novel protein C mutation causing neonatal purpura fulminans

Background

Neonatal purpura fulminans due to congenital protein C deficiency is a rare disorder.

Case characteristics

A four-day-old neonate presented with multiple necrotic skin lesions with abnormal coagulation profile.

Intervention and outcome

Skin lesions responded to repeated plasma transfusions but the neonate developed bilateral retinal detachment. A novel homozygous PROC gene mutation was noted in the neonate.

Message

Molecular diagnosis and prenatal counseling in neonatal purpura fulminans are vital considering the poor outcome.

     

Treatment of acute infectious purpura fulminans with activated protein C

Infectious purpura fulminans is associated with high mortality and morbidity despite standard antimicrobial therapy. We report satisfactory clinical outcome in two children with sepsis associated purpura fulminans who were treated with activated protein C (APC). There is need for proper evaluation of the efficacy of this extremely expensive therapeutic modality by randomized controlled trials before it is made standard of care in childhood infectious purpura fulminans.     

Necrotizing fasciitis as a complication of chickenpox

Necrotizing fasciitis is a rapid, potentially fatal soft tissue infection. Chickenpox is a common childhood illness not usually associated with severe complications. We present the case of an 8-year-old girl with necrotizing fasciitis of the upper back arising from superinfection of varicella skin lesions. Necrotizing fasciitis may have devastating sequelae, including septic shock, which mandate vigorous fluid resuscitation, appropriate antimicrobial therapy, and early aggressive surgical debridement.     

Purpura fulminans in a Chinese boy with congenital protein C deficiency

Severe and recurrent purpura fulminans developed in a Chinese boy at one day of age. Results of coagulation studies performed on the patient during attacks were compatible with the diagnosis of disseminated intravascular coagulation. Subsequent investigations have revealed that the patient is homozygous and that his parents are heterozygous for protein C deficiency. Cryoprecipitate and fresh frozen plasma induced a remission, and administration of warfarin has been successful in preventing recurrence of attacks for as long as 8 months without infusion of any plasma components. None of the family members who are heterozygous for protein C deficiency have had thrombotic episodes.     

新生儿遗传性蛋白C缺陷症一例

遗传性蛋白C缺陷症(Protein C Deficiency)是以反复静脉血栓形成为主要临床特征的遗传性疾病,多见于成人.新生儿期发病罕见,预后不良,多数在发病后1～2个月内死亡.我院收治1例,现报告如下.     

Severe protein S deficiency associated with heterozygous factor V Leiden mutation in a child with purpura fulminans

Homozygous or compound heterozygous protein S (PS) deficiency is very rare in the population; only 8 patients from 6 different families have been reported. On the other hand, the factor V Leiden (FVL) mutation is a frequent cause of inherited prothrombotic disorder. Here the authors report a case of patient with severe PS deficiency associated with the FVL mutation who has had purpura fulminans since the age of 10 days. She is the first child of a consanguineous marriage. Her father is double heterozygous for PS deficiency and FVL mutation and has recurrent thrombosis. This is the first case of severe PS deficiency combined with the FVL mutation. This suggests the need for complete evaluation of patients with purpura fulminans for thrombotic factors.     

Purpura fulminans in severe congenital protein C deficiency: Monitoring of treatment with protein C concentrate

This report describes the successful use of protein C concentrate to treat severe purpura fulminans in a homozygous protein C-deficient infant for 8 months until oral anticoagulation was initiated. While fresh frozen plasma was previously used in such cases to replace protein C in the acute phase, the availability of a monoclonal antibody purified protein C concentrate now allows specific replacement of protein C, avoiding problems of fluid overload. An occlusive-hydrocolloid bandage proved to be effective in local treatment of skin lesions. D-dimer, fibrin monomer, thrombin-antithrombin complex and prothrombin fragment 1+2 were useful markers in monitoring and optimizing protein C replacement therapy.     

Recombinant human activated protein C in the treatment of children with meningococcal purpura fulminans

Meningococcal purpura fulminans (MPF) produces high mortality and morbidity, despite appropriate standard therapy. Administration of recombinant human activated protein C (rhAPC) has been successfully applied in adults with MPF and pediatric studies are under way. We report three pediatric patients with MPF treated with rhAPC as compassionate therapy. In two of these patients, positive clinical and laboratory effects were observed and both children achieved full recovery. The remaining patient died after 36 hours from refractory multiorgan failure. No rhAPC-related adverse effects were detected. The reported cases highlight the usefulness of rhAPC in children with MPF at least as a rescue compassionate treatment. Further clinical trials are needed to better delineate its efficacy and administration schedule in children.     

Purpura fulminans as a sequel to erythema nodosum in a child with homozygous Leiden mutation and acquired protein S deficiency

A 6-y-old boy presented with generalized, bruise-like swelling of both legs. Three weeks later, he developed purpura fulminans in one of the affected feet. Histology of the leg swelling was in accordance with erythema nodosum. The boy proved to be homozygous for the Factor V Leiden mutation and to have acquired protein S deficiency. He recovered, with partial loss of two toes. CONCLUSION: In contrast to what is often stated, erythema nodosum is not always a benign condition. On the basis of this report, we suggest that if extensive erythema nodosum develops in an individual without any known thrombophilic disorder, investigations with respect to the latter should be performed.