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La púrpura fulminante adquirida postinfecciosa es una entidad aguda y grave, poco frecuente, caracterizada por necrosis cutánea asociada a coagulopatía intravascular diseminada (CID), en ausencia de infección activa o alteraciones previas de la coagulación. Afecta fundamentalmente a la población pediátrica y, en el 90 % de los casos, está precedida por un proceso infeccioso. El mecanismo fisiopatológico es un déficit transitorio de proteína S mediado por autoanticuerpos que favorece un estado de hipercoagulabilidad. Se presenta el caso de un varón de 8 años previamente sano, con lesiones cutáneas purpúricas características de púrpura fulminante asociada a CID en ausencia de sepsis. Se constató deficiencia plasmática transitoria de proteína S. Requirió tratamiento sustitutivo con plasma fresco congelado y anticoagulación; la evolución fue favorable. La actividad de la proteína S permaneció disminuida durante 2 meses.

Acquired postinfectious purpura fulminans is a rare, acute, and severe disease characterized by skin necrosis associated with disseminated intravascular coagulation (DIC) in the absence of active infection or previous coagulation disorders. It mainly affects the pediatric population and, in 90% of cases, it is preceded by an infectious process. The pathophysiological mechanism is a transient autoantibodymediated protein S deficiency that favors a hypercoagulable state. Here we describe the case of a previously healthy 8-year-old boy with purpuric skin lesions typical of purpura fulminans associated with DIC in the absence of sepsis. A transient plasma protein S deficiency was confirmed. He required replacement therapy with fresh frozen plasma and anticoagulation; he had a favorable course. Protein S activity remained decreased for 2 months.

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Autoimmune diseases and thrombophilic disorders, notably antiphospholipid syndrome (APS) and protein S deficiency, present a formidable challenge in pregnancy, substantially increasing the risk of thromboembolic complications by up to 20%. Pulmonary thromboembolism (PTE), characterized by a significantly higher maternal mortality rate, is of particular concern. APS, defined by the presence of antiphospholipid antibodies, emerges as a pivotal risk factor for PTE during pregnancy, especially in women exhibiting triple negativity. Concurrently, protein S deficiency further amplifies vulnerability to thromboembolic events, establishing a high-risk scenario for pregnant individuals. In a case involving a 29-year-old pregnant woman with a history of generalized lupus erythematosus, triple-negative antiphospholipid syndrome, and protein S deficiency, sudden-onset dyspnea prompted thorough investigation. Despite her complex medical history, a multidisciplinary approach led to the accurate diagnosis and successful management of subsegmental pulmonary thromboembolism, ensuring the well-being of both mother and fetus. Effectively managing PTE during pregnancy demands a comprehensive, multidisciplinary approach involving collaboration among obstetricians, internists, rheumatologists, and hematologists. Accurate diagnosis, tailored anticoagulation strategies, and continuous monitoring stand as indispensable pillars for maternal and fetal well-being.

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Acquired postinfectious purpura fulminans is a rare, acute, and severe disease characterized by skin necrosis associated with disseminated intravascular coagulation (DIC) in the absence of active infection or previous coagulation disorders. It mainly affects the pediatric population and, in 90% of cases, it is preceded by an infectious process. The pathophysiological mechanism is a transient autoantibody-mediated protein S deficiency that favors a hypercoagulable state. Here we describe the case of a previously healthy 8-year-old boy with purpuric skin lesions typical of purpura fulminans associated with DIC in the absence of sepsis. A transient plasma protein S deficiency was confirmed. He required replacement therapy with fresh frozen plasma and anticoagulation; he had a favorable course. Protein S activity remained decreased for 2 months.

La púrpura fulminante adquirida postinfecciosa es una entidad aguda y grave, poco frecuente, caracterizada por necrosis cutánea asociada a coagulopatía intravascular diseminada (CID), en ausencia de infección activa o alteraciones previas de la coagulación. Afecta fundamentalmente a la población pediátrica y, en el 90 % de los casos, está precedida por un proceso infeccioso. El mecanismo fisiopatológico es un déficit transitorio de proteína S mediado por autoanticuerpos que favorece un estado de hipercoagulabilidad. Se presenta el caso de un varón de 8 años previamente sano, con lesiones cutáneas purpúricas características de púrpura fulminante asociada a CID en ausencia de sepsis. Se constató deficiencia plasmática transitoria de proteína S. Requirió tratamiento sustitutivo con plasma fresco congelado y anticoagulación; la evolución fue favorable. La actividad de la proteína S permaneció disminuida durante 2 meses.

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Portal vein thrombosis (PVT) is a rare condition in the general population that develops serious complications if left untreated for long time. We present a case of a 29-year-old woman who developed PVT due to protein S deficiency versus neonatal funiculitis. Over time, the patient developed upper gastrointestinal bleeding due to esophageal varices and hypersplenism with splenic sequestration that caused minor bleeding episodes. Laparoscopic splenectomy and proximal splenorenal shunt with distal pancreatectomy due to aneurysmal dilatations of the splenic artery were successfully performed to avoid mayor progression of portal hypertension. Patient was discharged with indefinite anticoagulation and after surgery platelets raised up to 200x103/mm3. Laparoscopic splenectomy and proximal splenorenal shunt for portal hypertension due to portal vein thrombosis is an adequate surgery procedure which should be applied in these medical cases.

La trombosis de la vena porta (TVP) es una afección poco común en la población general que desarrolla complicaciones graves si no se trata durante mucho tiempo. Presentamos el caso de una mujer de 29 años que desarrolló TVP por deficiencia de proteína S versus funiculitis neonatal. Con el tiempo, la paciente desarrolló hemorragia digestiva alta por varices esofágicas e hiperesplenismo con secuestro esplénico que provocó episodios hemorrágicos menores. La esplenectomía laparoscópica y la derivación esplenorrenal proximal con pancreatectomía distal por dilataciones aneurismáticas de la arteria esplénica se realizaron con éxito para evitar una mayor progresión de la hipertensión portal. La paciente fue dada de alta con anticoagulación indefinida y tras la cirugía se elevaron las plaquetas hasta 200x103/mm3. La esplenectomía laparoscópica y la derivación esplenorrenal proximal para la hipertensión portal por trombosis de la vena porta es un procedimiento quirúrgico adecuado que debe aplicarse en estos casos médicos.

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Abstract Introduction: Congenital protein S deficiency is a very rare disease in the population. In pregnant women it is associated with spontaneous abortion and fetal death, among other complications. Case presentation: We present the case of a 32-year-old multigravida with a 36-week pregnancy, with thromboprophylaxis with enoxaparin from the 4th week of gestation and with a diagnosis of thrombophilia-due to functional protein S deficiency-which was intervened with elective c-section under spinal anesthesia. In addition, a review of the relevant literature was conducted. Discussion: The risk of venous thromboembolism is approximately 4 to 5 times greater during gestation, and the recommendation of thromboprophylaxis in low-risk thrombophilia is based on the presence of associated risk factors. In patients receiving low molecular weight heparin (LMWH) as thromboprophylaxis, an interval of at least 12 hours after the last dose of LMWH before neuropsy and restarting the next dose after at least 4hours of spinal technique use is recommended. Conclusion: Neuroaxial techniques should be individualized and receive pre and postpartum thromboprophylaxis. In addition, non-pharmacological thromboprophylaxis measures in the perioperative period should be considered. Spinal anesthesia was effective and safe in this patient.

Resumen Introducción: La deficiencia congénita de proteína S es una enfermedad muy rara en la población. En gestantes está asociada a aborto espontáneo y muerte fetal, entre otras complicaciones. Presentación del caso: Presentamos el caso de una multigesta de 32 años con embarazo de 36 semanas, con tromboprofilaxis con enoxaparina desde la semana cuarta de gestación y con diagnóstico de trombofilia -por deficiencia de proteína S funcional-, la cual fue intervenida con cesárea electiva bajo anestesia espinal. Además, se realizó revisión de la literatura al respecto. Discusión: El riesgo de tromboembolismo venoso es aproximadamente 4 a 5 veces mayor durante la gestación, y la recomendación de tromboprofilaxis en trombofilias de bajo riesgo se basa en la presencia de factores de riesgo asociados. En pacientes que reciben Heparinas de Bajo Peso Molecular (HBPM) como tromboprofilaxis, se recomienda un intervalo de al menos 12 horas después de la última dosis de HBPM antes de la punción del neuroeje, y reiniciar la siguiente dosis después de al menos 4 horas de uso de la técnica espinal. Conclusión: Las técnicas neuroaxiales deben ser individualizadas y recibir tromboprofilaxis pre y posparto. Además, se deben tener en cuenta las medidas de tromboprofilaxis no farmacológicas en el periodo perioperatorio. La anestesia espinal fue efectiva y segura en esta paciente.

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BACKGROUND: Spiny keratoderma shows "music box spine" keratotic papules limited to the palms and soles and these lesions do not cause any trouble besides the cosmetic impairment and the sensation of roughness of hands and soles. AIM: To present cases and review the literature on spiny keratoderma. PATIENTS/METHODS, RESULTS: Three cases of spiny keratoderma are presented. The first case is a 52-year-old man with protein S deficiency presented with multiple spiny keratotic papules on palms and soles for more than 30 years, referring to remove them with a razor blade. The second case is an 84-year-old man who was hospitalized due to a rectal adenocarcinoma diagnosed 2 months before and presented multiples papules on palms and soles that were present for more than 50 years, with worsening after being bedridden. The third case is a 59-year-old woman who had since birth together with relatives the same type of spiny keratotic papules on palms and soles. CONCLUSION: The authors discuss the epidemiologic data and differential diagnosis of spiny keratoderma, as well as the related literature. Associations with systemic disease or malignancy occur in some acquired cases. It is important to distinguish from other palmoplantar keratodermas as some of that can be linked to cutaneous and internal malignancies. To date, no cases of spiny keratoderma in patients with protein S deficiency and only one case of association with rectal carcinoma have been reported.

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ABSTRACT Acute mesenteric ischemia is a medical emergency that accounts for less than 1/1000 hospital admissions. The disease affects adults older than 50 years predominantly with cardiac compromise, in whom the presence of acute abdominal pain is the cardinal manifestation, and should make the clinician suspect this entity. Its presentation in adolescents is unusual; therefore, in these cases, the possibility of an underlying thrombophilia should be part of the differential diagnosis. The case is presented here of a young female with a protein C and S deficiency as the cause of mesenteric thrombosis.

RESUMEN La isquemia mesentérica aguda es una urgencia médica que se presenta en menos de 1/1.000 ingresos hospitalarios. Es una entidad clínica infrecuente, predominante en adultos mayores de 50 arios con afectación cardíaca, en quienes la presencia de dolor abdominal agudo es la manifestación cardinal y debería hacer sospechar dicho diagnóstico. La presentación en adolescentes es inusual, por lo que, en estos casos, la posibilidad de una trombofilia subyacente debe formar parte del diagnóstico diferencial. Presentamos el caso de una paciente joven con deficiencia de proteínas C y S como agente causal de trombosis mesentérica.

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La infección por VIH ha sido reconocida en la actualidad como una condición protrombótica, reportándose en pacientes con SIDA 10 veces mayor riesgo de desarrollo de eventos tromboembólicos de los sistemas arterial y venoso; la literatura reciente ha estimado una incidencia entre el 0.26% y 7.6 %; dicha incidencia se describe asociada a infecciones. oportunistas y/o malignidades. Una variedad de mecanismos potenciales relacionados con factores del hospedador, el virus y el TARV (tratamiento antiretroviral), están implicados en el estado de hipercoagulabilidad en pacientes con SIDA, cuya fisiopatología conduce a alteraciones en la respuesta inflamatoria y de la cascada de coagulación que no han sido bien dilucidadas; sin embargo, incluye la presencia de anticuerpos anticardiolipinas, disminución de anticoagulantes naturales, y otros factores independientes que en conjunto originan morbi-mortalidad creciente si dicha predisposición a eventos trombóticos no es reconocida por el médico. Los autores de este artículo describen 2 casos de eventos trombóticos en pacientes con síndrome de inmunodeficiencia humana hospitalizados en el Servicio de Medicina Interna de Hospital Universitario de Caracas(AU)

AIDS infection has now been recognized as a prothrombotic condition reported in patients with this disease, and have been found 10 times at greater risk of developing thromboembolic events with systemic involvement. Recent literature has estimated an incidence between 0.26% and 7.6%, also described in association with opportunistic infections and / or malignancies. A variety of potential mechanisms related to host factors, virus and antiretroviral therapy (ART) are implicated in the hypercoagulability status in HIV-positive patients, the pathophysiology leading to alterations in the inflammatory response and the coagulation cascade. It has not been well understood and includes the presence of anticardiolipin antibodies, reduction of natural anticoagulants, and other independent factors that lead to increased morbidity and mortality if such predisposition to thrombotic events is not recognized by the clinician. The authors of this article describe 2 cases of thrombotic events in patients with human immunodeficiency syndrome hospitalized in the Hospital Universitario of Caracas, Venezuela(AU)

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INTRODUCTION: Cerebral venous thrombosis (CVT) is a rare affliction characterized by a wide diversity in its clinical expression and etiologies. Data from black populations concerning CVT are limited. We examined the clinical, radiological, and etiological aspects as well as the outcome of CVT in Guadeloupe, a French Overseas Department in the Caribbean. METHODS: All patients hospitalized between 2000 and 2011 at the University Hospital of Pointe-à-Pitre and diagnosed with CVT were retrospectively studied. Forty-five patients, each having had a medical imaging confirming the diagnostic, were retained. RESULTS: The frequency of CVT in Guadeloupe was estimated at 15 to 20 per 100,0000 per year in our survey. Our patients were largely composed of young women (73.3%). The average patient age was 40 years (14 to 80), with an incidence peak for women in the 20 to 50 years age range. The onset was sub-acute in 69% of cases, where headaches represented 93% of initial symptoms. Thrombosis of the SLS (60%), and of the lateral sinuses (64.4%) were the most frequently encountered. We observed a majority of mild clinical forms with a good functional prognosis. The main etiological factors were oral estro-progestative contraception (40%), and a positive thrombophilia test (33.3%). The thrombophilia factors in Guadeloupe differed from those in Caucasian populations, with a higher frequency of protein S deficit. CONCLUSION: The clinical and radiological characters are similar to those described in classical studies. Our study suggests a higher incidence of CVT in Guadeloupe, compared to results from Western countries. Further investigation is necessary to better characterize the thrombo-embolic venous risk factors in the black population. Protein S deficit appears to be the most frequent cause of thrombophilia in our population.

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