Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation.

Background: Common variable immunodeficiency disorders (CVIDs), which are primary immunodeficiencies characterized by the failure of primary antibody production, typically present with recurrent bacterial infections, decreased antibody levels, autoimmune features, and rare atypical manifestations that can complicate diagnosis and management. Although most cases are sporadic, approximately 10% of the patients may have a family history of immunodeficiency. Genetic causes involving genes related to B-cell development and survival have been identified in only a small percentage of cases. Case presentation: We present the case of a family with two brothers who presented with mycosis fungoides as an exclusive symptom of a common variable immunodeficiency disorder (CVID). Whole-exome sequencing of the index patient revealed a pathogenic variant of the NFKB2 gene. Based on this diagnosis and re-evaluation of other family members, the father and brother were diagnosed with this rare immune and preneoplastic syndrome. All CVID-affected family members presented with mycosis fungoides as their only symptom, which is, to the best of our knowledge, the first case to be reported. Conclusion: This case highlights the importance of high-throughput sequencing techniques for the proper diagnosis and treatment of hereditary hematological disorders.

Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.

We present the case of a 53-yr-old woman with an inherited bone marrow failure coexisting with uncommon extrahematological symptoms, such as cirrhosis and skin abnormalities. Whole-exome sequencing revealed a diagnosis of Shwachman-Diamond syndrome (SDS) with an atypical presentation. Unexpected was the age of disease expression, normally around the pediatric age, with a predominantly median survival age of 36 yr. To our knowledge, she was the first adult patient with a molecular diagnosis of Shwachman-Diamond in Uruguay. The patient was referred to our service when she was 43-yr-old with a history of bone marrow failure with anemia and thrombocytopenia. All secondary causes of pancytopenia were excluded. Bone marrow aspirate and biopsy specimens were hypocellular for the patient's age. Numerous dysplastic features were observed in the three lineages. She had a normal karyotype and normal chromosomal fragility. A diagnosis of low-risk hypoplastic MDS was made. Dermatological examination revealed reticulate skin pigmentation with hypopigmented macules involving the face, neck, and extremities; nail dystrophy; premature graying; and thin hair. Extrahematological manifestations were present (e.g., learning difficulties, short stature). Last, she was diagnosed with cryptogenic liver cirrhosis CHILD C. This rules out all other possible causes of chronic liver disease. This clinical presentation initially oriented the diagnosis toward telomeropathy, so we did a telomeropathy NGS panel that came up negative. Finally, we did an exome sequencing that confirmed the diagnosis of SDS. Using whole-exome sequencing, we were able to find two compound heterozygous mutations in the SBDS gene that were responsible for the phenotype of a patient that was undiagnosed for 10 years. An earlier genetic diagnosis could have influenced our patient's outcome.

Germline CEBPA mutation in familial acute myeloid leukemia.

Myeloid Neoplasms with germline predisposition become part of 2016 World Health Organization (WHO) classification of hematological malignancies since 2016. CCAAT/enhancer binding protein-alpha (CEBPA) is a myeloid transcription factor located in chromosome 19q. Acute myeloid leukemia (AML) with biallelic mutations of CEBPA AML with recurrent genetic abnormalities according to WHO classification. The inheritance of a germline CEBPA mutation predisposes to the development of AML with autosomal dominant inheritance. Familial CEBPA AML share characteristics with somatic CEBPA AML. However, a higher relapse incidence is reported. We present the case of a 46-years-old male with family history of acute leukemia who was diagnosed with single mutated CEBPA acute myeloid leukemia. The same mutation was found in two of his siblings. The clinical suspicion and proper diagnosis of familial cases is necessary, especially when a related allogenic transplant is indicated in order to select an adequate donor.

Estados protrombóticos y pérdida de embarazo / Prothrombotic states and pregnancy loss / Estados protrombóticos e perda de gravidez

Resumen: Las pérdidas de embarazos son una complicación obstétrica frecuente. Se conoce que, 15% de las mujeres embarazadas tienen al menos una pérdida esporádica. El 5% experimentan 2 pérdidas, y hasta un 1% 3 o más. La edad materna avanzada, la multiparidad y el antecedente de pérdida de embarazo previo aumentan el riesgo. La vinculación de los estados protrombóticos, hereditarios y adquiridos, con las pérdidas de embarazo se relaciona con el hecho de que para que se mantenga el embarazo es necesario exista una adecuada circulación placentaria. A lo largo de los años se ha estudiado la relación que existe entre los diferentes estados protrombóticos hereditarios y adquiridos con estas complicaciones vasculares que determinan pérdidas de embarazo y complicaciones obstétricas. Se realiza una revisión sobre las trombofilias hereditarias y adquiridas con ésta entidad.

Abstract: Pregnancy losses are a common obstetric complication. It is known that 15% of pregnant women have at least one sporadic loss. 5% experience 2 losses, and up to 1% 3 or more. Advanced maternal age, multiparity, and a history of prior pregnancy loss increase the risk. The link between hereditary and acquired prothrombotic states with pregnancy losses is related to the fact that adequate placental circulation is necessary for the pregnancy to be maintained. Over the years, the relationship between the different hereditary and acquired prothrombotic states with these vascular complications that lead to pregnancy losses and obstetric complications has been studied. A review is carried out on the hereditary and acquired thrombophilias with this entity.

Resumo: A perda da gravidez é uma complicação obstétrica comum. Sabe-se que 15% das gestantes apresentam pelo menos uma perda esporádica. 5% experimentam 2 perdas e até 1% 3 ou mais. Idade materna avançada, multiparidade e história de perda de gravidez anterior aumentam o risco. A ligação entre os estados protrombóticos hereditários e adquiridos com as perdas gestacionais está relacionada ao fato de que a circulação placentária adequada é necessária para a manutenção da gravidez. Ao longo dos anos, estudou-se a relação entre os diferentes estados pró-trombóticos hereditários e adquiridos com essas complicações vasculares que levam à perda da gravidez e complicações obstétricas. É realizada uma revisão das trombofilias hereditárias e adquiridas com essa entidade.

5-Azacytidine restores interleukin 6-increased production in mesenchymal stromal cells from myelodysplastic patients.

INTRODUCTION: Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematological diseases. In addition to defects in hematologic progenitor and stem cells, dysfunctions in the bone marrow microenvironment (BMM) participate in the MDS pathogenesis. Furthermore, the immune response is deregulated by the pro-inflammatory response prevailing in low-risk MDS, while immunosuppression predominates in high-risk MDS. Mesenchymal stromal cells (MSC), part of the BMM, are characterized by plastic adherent growth and multipotentiality. They exhibit immunomodulatory properties and sustain hematopoiesis. There is conflicting evidence regarding their status in MDS. The aim of this study was to characterize MDS-MSC and evaluate the effect of 5-Azacytidine. METHODS: The MSC from MDS patients and controls were cultured and characterized according to the International Society of Cell Therapy recommendations. Immunomodulatory properties were assessed by studying the MSD cytokine production, using the cytometric bead array. We evaluated the effect of 5-Azacytidine on the MSC cytokine production. RESULTS: We included 35 MDS patients and 22 controls. The MSC from patients and controls were cultured and characterized. The MSC from patients showed morphological differences, but there were no differences in immunophenotype or multipotentiality. The interleukin 6 (IL-6) was the main MSC secreted cytokine. The MDS-MSC produced higher levels of IL-6, IL-17, interferon gamma, or interferon γ (INF-γ), and tumor necrosis factor alpha (TNF-α). The in vitro 5-Azacytidine treatment induced a significant decrease in the IL-6 production by MDS-MSC. CONCLUSIONS: The MDS-MSC show an increased production of pro-inflammatory cytokines. The in vitro treatment with 5-Azacytidine lead to a significant reduction in the IL-6 production by the MDS-MSC, restoring the IL-6 levels to those found in controls. The MSC produced inflammatory cytokines involved in the MDS pathogenesis, representing a potential future therapeutic target. Moreover, 5-Azacytidine may have a stromal effect, modulating the immune response in MDS.

Flow cytometry "Ogata score" for the diagnosis of myelodysplastic syndromes in a real-life setting. A Latin American experience.

INTRODUCTION: Flow cytometry (FC) is a helpful tool for the diagnosis of myelodysplastic syndrome (MDS). Different FC score systems have been developed. The "Ogata score" is a simple diagnostic score that has been validated having a sensitivity of 69% and a specificity of 92% in low-risk MDS. We aimed to study the feasibility and the utility of the "Ogata score" for the diagnosis of MDS among Latin America (LA) Laboratories. METHODS: This is a case and control study conducted in LA institutions members of Grupo Latinoamericano de Mielodisplasia (GLAM). A total of 146 MDS patients and 57 control patients were included. "Ogata score" was calculated. RESULTS: The sensitivity of "Ogata score" was 75.6% (95% CI, 66.8-81.3), specificity was 91.2% (95% CI, 79.7-96.7), PPV was 95.6% (95% CI, 88.5-98.3), and NPV was 65.4% (95% CI, 49.1-71.9). In low/intermediate-1 IPSS patients group, the sensitivity was 70.1% (95% CI, 60.2-78.2), specificity was 91.2% (CI-95%, 79.7-96.7), PPV was 94.2% (95% CI, 86.4-97.8), and NPV was 62.1% (95% CI, 53.0-78.7). In the group of patients "without MDS specific markers" (patients without ring sideroblasts, blast excess, or chromosomal abnormalities), the sensitivity was 66.7% (CI-95%, 55.8-76.0), specificity was 91.2% (95% CI, 79.7-96.7), PPV was 92.3% (95% CI, 82.2-97.1), and NPV was 63.5% (95% CI, 51.9-73.5). CONCLUSIONS: The diagnostic power found in this study was similar to the reported by Della-Porta et al. Also in LA, the analysis was made in modern equipment with acquisition of at least 100 000 events which permits a good reproducibility of the results.

[Adult T-cell leukemia/lymphoma. Report of a case in Uruguay]. / Un caso de leucemia/linfoma T del adulto en Uruguay.

Adult T-cell leukemia/lymphoma belongs to the group of mature T-cell malignancies according to the WHO classification. It constitutes a rare entity and has a strong association with infection by human T-lymphotropic virus 1. In Uruguay, this viral infection is very infrequent and, to our knowledge, no case of adult T-cell leukemia/lymphoma has been previously reported. We describe the case of a woman, immigrant from Peru, who presented with persistent lymphocytosis, intestinal parasitic diseases, and skin involvement. The diagnosis was delayed and the patient died before initiating oncological treatment. We therefore emphasize the relevance of an early clinical suspicion and serology for this virus, especially in patients coming from endemic countries like Peru.

Un caso de leucemia/linfoma T del adulto en Uruguay / Adult T-cell leukemia/lymphoma. Report of a case in Uruguay

La leucemia/linfoma T del adulto pertenece al grupo de neoplasias T maduras y constituye una entidad clínica de baja incidencia. Su etiopatogenia se asocia a la infección por el virus linfotrópico humano 1. En Uruguay se registra una incidencia muy baja de infección por este virus y no se ha comunicado a la fecha ningún caso de leucemia/linfoma T del adulto. Presentamos el caso de una inmigrante de Perú, quien se presentó con linfocitosis sostenida, múltiples parasitosis intestinales y compromiso cutáneo. El diagnóstico fue tardío y la paciente falleció antes de iniciar tratamiento oncoespecífico. Destacamos la importancia de la sospecha clínica de esta entidad y el estudio de la serología para el virus, en particular en casos, como el nuestro, procedentes de área endémica.

Adult T-cell leukemia/lymphoma belongs to the group of mature T-cell malignancies according to the WHO classification. It constitutes a rare entity and has a strong association with infection by human T-lymphotropic virus 1. In Uruguay, this viral infection is very infrequent and, to our knowledge, no case of adult T-cell leukemia/lymphoma has been previously reported. We describe the case of a woman, immigrant from Peru, who presented with persistent lymphocytosis, intestinal parasitic diseases, and skin involvement. The diagnosis was delayed and the patient died before initiating oncological treatment. We therefore emphasize the relevance of an early clinical suspicion and serology for this virus, especially in patients coming from endemic countries like Peru.

Estudio del ratio de FLT3-ITD como factor pronóstico en leucemias agudas mieloides: primeros casos estudiados en Uruguay / Analysis of the FLT3-ITD ratio as a prognostic factor in acute myeloid leukemias. First cases studied in Uruguay

Introducción: en los últimos años ha existido un avance significativo en el conocimiento biológico de la leucemia aguda mieloide (LAM) que se ha traducido en que el tratamiento de los pacientes afectados se realice guiado por el perfil citogenético y molecular. Las duplicaciones internas en tándem del gen FLT3 (FLT3-ITD) representan las mutaciones más frecuentes en LAM y confieren un mal pronóstico en pacientes con riesgo citogenético intermedio. Se ha reportado que la presencia de un ratio FLT3-ITD elevado (relación entre cantidad de alelo portador de ITD y de alelo salvaje) confiere un mayor pronóstico adverso. Objetivo: estandarizar una técnica, no disponible en Uruguay, para determinar el ratio de FLT3-ITD en pacientes portadores de LAM de riesgo citogenético intermedio. Discutir los primeros casos de LAM FLT3+ a los que se realizó el ratio. Material y método: para la detección de FLT3-ITD se amplificó un fragmento correspondiente a los exones 14 y 15 del gen en muestras de médula ósea al debut de la enfermedad. En los casos positivos se determinó el ratio de FLT3-ITD mediante análisis de fragmentos por electroforesis capilar. Resultados: en este trabajo mostramos la estandarización de un método para la determinación del ratio de FLT3-ITD y los primeros casos analizados en nuestro país. Se estudiaron 12 pacientes y se detectó la presencia de FLT3-ITD en tres de ellos. El ratio de FLT3-ITD encontrado fue en dos casos menor a 0,8 y en un caso mayor o igual a 0,8. Conclusiones: disponemos de una técnica de determinación del ratio de FLT3-ITD con importante valor pronóstico para pacientes portadores de LAM.

Abstract Introduction: In recent years, significant progress has been made in the biological knowledge of acute myeloid leukemia (AML), which has been reflected on treatment of affected patients being guided by cytogenetics and molecular profiling. FLT3 internal tandem duplications (FLT3/ITDs) represent the most frequent mutations in AML and confer a bad prognosis in patients with intermediate cytogenetic risk. It has been reported that the presence of a high FLT3-ITD ratio (relationship between number of ITD carrier allele and wild type allele). Objective: To standardize a technique, still not available in Uruguay, to determine the FLT3-ITD ratio in patients carriers of AML of intermediate cytogenetic risk. To discuss the first cases of AML FLT3+ who underwent ratio analysis. Methods: In order to identify FLT3-ITD, the fragment corresponding to exons 14 and 15 of the gene was amplified in bone marrow samples upon debut of the disease. In the cases it was positive, the FLT3-ITD ratio was determined by the analysis of fragments with capillary electrophoresis. Results: This study presented the standardization of a method to determine the FLT3-ITD ratio and the first cases analysed in our country. Twelve patients were studied and the presence of FLT3-ITD was detected in three of them. In two cases, the FLT3-ITD ratio found was below 0.8 and in one case it was greater than or equal to 0.8. Conclusions: We have a technique to determine the FLT3-ITD ratio with an important prognostic value for patients carriers of AML.

Resumo Introdução: nos últimos anos observou-se um avanço significativo do conhecimento biológico da leucemia aguda mieloide (LAM) que fez com que o tratamento destes pacientes seja orientado por seus perfis citogenético e molecular. As duplicações internas no tandem do gen FLT3 (FLT3-ITD) são as mutações mais frequentes na LAM e conferem um mal prognóstico em pacientes com risco citogenético intermediário. Foi descrito que uma proporção de FLT3-ITD elevada (relação entre a quantidade do alelo portador de ITD e do alelo selvagem) está vinculada com um maior prognóstico adverso. Objetivo: padronizar uma técnica, não disponível no Uruguai, para determinar a proporção de FLT3-ITD em pacientes portadores de LAM com risco citogenético intermediário. Discutir os primeiros casos de LAM FLT3+ cuja proporção foi calculada. Materiais e métodos: para a detecção de FLT3-ITD, foi realizada a ampliação de um fragmento correspondente aos exons 14 e 15 do gen em amostras de medula óssea no inicio da doença. Nos casos positivos, a proporção de FLT3-ITD foi determinada usando análise de fragmentos por eletroforese capilar. Resultados: neste trabalho mostramos a padronização de um método para a determinação da proporção de FLT3-ITD e os primeiros casos estudados no nosso país. Foram estudados 12 pacientes e a presença de FLT3-ITD foi determinada em 3. Em dois casos a proporção de FLT3-ITD era menor que 0,8 e em 1 caso maior ou igual a 0,8. Conclusões: contamos com uma técnica de determinação da proporção de FLT3-ITD com importante valor prognóstico para pacientes portadores de LAM.

[Cytarabine and skin reactions in acute myeloid leukemia]. / Citarabina y reacciones cutáneas en leucemia aguda mieloide.

Cytarabine is an antimetabolite used in the treatment of acute myeloid leukemia (AML). It has many adverse effects as: myelosuppression, toxic reactions involving central nervous system, liver, gastrointestinal tract, eyes or skin. Dermatologic toxicity is often described as rare; nevertheless there are differences in the reported frequency. We performed a retrospective study including all AML treated with chemotherapy that involved cytarabine between 1st July of 2006 and 1st July of 2012; 46 patients were included with a median age of 55 years. The overall incidence of skin reactions was 39% (n = 18). Sex, age, history of atopy, history of drug reactions, or dose of cytarabine used, were not associated with them. Skin reactions were observed from 2 to 8 days after treatment started. Considering injury degree: 27.8% had grade 1, 38.9% grade 2 and 33.3% grade 3. We did not find any injury grade 4 or death associated with skin toxicity. As for the type of injury: 55.6% presented macules, 22.2% papules and 22.2% erythema. Lesions distribution was diffuse in 52% of patients, acral in 39.3%, and at flexural level in 8.7%. Adverse cutaneous reactions secondary to the administration of cytarabine are frequent in our service and include some cases with severe involvement. Although these reactions usually resolve spontaneously, they determine an increased risk of infection and a compromise of the patient quality of life.

Citarabina y reacciones cutáneas en leucemia aguda mieloide / Cytarabine and skin reactions in acute myeloid leukemia

La citarabina es un antimetabolito utilizado en el tratamiento de las leucemias agudas mieloides (LAM). Esta droga presenta numerosos efectos adversos (mielosupresión, toxicidad en sistema nervioso central, hepática, gastrointestinal, ocular y cutánea). La toxicidad dermatológica es habitualmente descrita como rara, sin embargo existen diferencias en la incidencia comunicada. Se realizó un estudio retrospectivo donde se incluyeron todas las LAM tratadas con quimioterapia que incluía citarabina, entre el 1º de julio 2006 y el 1° de julio 2012. Se incluyeron 46 pacientes con una mediana de edad de 55 años. La incidencia global de reacciones cutáneas fue de 39% (n = 18). La presencia de lesiones cutáneas no se asoció con sexo, edad, antecedentes de atopía, de reacciones medicamentosas, tipo de LAM ni dosis de citarabina utilizada. Las lesiones se observaron entre 2 a 8 días de iniciado el tratamiento. En cuanto al grado lesional, 27.8% presentaron grado 1, 38.9% grado 2 y 33.3% grado 3. No existieron lesiones grado 4 ni muerte vinculada a toxicidad cutánea. En cuanto al tipo de lesiones, 55.6% se presentaban con máculas, 22.2% con pápulas y 22.2% con eritema. Con respecto a la distribución de las lesiones, 52% de los pacientes presentaron una distribución difusa, 39.3% acral y 8.7% a nivel flexural. Las reacciones adversas cutáneas con la administración de citarabina son frecuentes en nuestro medio, en algunos casos con afectación grave. Si bien suelen resolverse espontáneamente, pueden determinar mayor riesgo de infección, así como comprometer la calidad de vida.

Cytarabine is an antimetabolite used in the treatment of acute myeloid leukemia (AML). It has many adverse effects as: myelosuppression, toxic reactions involving central nervous system, liver, gastrointestinal tract, eyes or skin. Dermatologic toxicity is often described as rare; nevertheless there are differences in the reported frequency. We performed a retrospective study including all AML treated with chemotherapy that involved cytarabine between 1st July of 2006 and 1st July of 2012; 46 patients were included with a median age of 55 years. The overall incidence of skin reactions was 39% (n = 18). Sex, age, history of atopy, history of drug reactions, or dose of cytarabine used, were not associated with them. Skin reactions were observed from 2 to 8 days after treatment started. Considering injury degree: 27.8% had grade 1, 38.9% grade 2 and 33.3% grade 3. We did not find any injury grade 4 or death associated with skin toxicity. As for the type of injury: 55.6% presented macules, 22.2% papules and 22.2% erythema. Lesions distribution was diffuse in 52% of patients, acral in 39.3%, and at flexural level in 8.7%. Adverse cutaneous reactions secondary to the administration of cytarabine are frequent in our service and include some cases with severe involvement. Although these reactions usually resolve spontaneously, they determine an increased risk of infection and a compromise of the patient quality of life.

Citarabina y reacciones cutáneas en leucemia aguda mieloide / Cytarabine and skin reactions in acute myeloid leukemia

La citarabina es un antimetabolito utilizado en el tratamiento de las leucemias agudas mieloides (LAM). Esta droga presenta numerosos efectos adversos (mielosupresión, toxicidad en sistema nervioso central, hepática, gastrointestinal, ocular y cutánea). La toxicidad dermatológica es habitualmente descrita como rara, sin embargo existen diferencias en la incidencia comunicada. Se realizó un estudio retrospectivo donde se incluyeron todas las LAM tratadas con quimioterapia que incluía citarabina, entre el 1º de julio 2006 y el 1° de julio 2012. Se incluyeron 46 pacientes con una mediana de edad de 55 años. La incidencia global de reacciones cutáneas fue de 39% (n = 18). La presencia de lesiones cutáneas no se asoció con sexo, edad, antecedentes de atopía, de reacciones medicamentosas, tipo de LAM ni dosis de citarabina utilizada. Las lesiones se observaron entre 2 a 8 días de iniciado el tratamiento. En cuanto al grado lesional, 27.8% presentaron grado 1, 38.9% grado 2 y 33.3% grado 3. No existieron lesiones grado 4 ni muerte vinculada a toxicidad cutánea. En cuanto al tipo de lesiones, 55.6% se presentaban con máculas, 22.2% con pápulas y 22.2% con eritema. Con respecto a la distribución de las lesiones, 52% de los pacientes presentaron una distribución difusa, 39.3% acral y 8.7% a nivel flexural. Las reacciones adversas cutáneas con la administración de citarabina son frecuentes en nuestro medio, en algunos casos con afectación grave. Si bien suelen resolverse espontáneamente, pueden determinar mayor riesgo de infección, así como comprometer la calidad de vida.(AU)

Cytarabine is an antimetabolite used in the treatment of acute myeloid leukemia (AML). It has many adverse effects as: myelosuppression, toxic reactions involving central nervous system, liver, gastrointestinal tract, eyes or skin. Dermatologic toxicity is often described as rare; nevertheless there are differences in the reported frequency. We performed a retrospective study including all AML treated with chemotherapy that involved cytarabine between 1st July of 2006 and 1st July of 2012; 46 patients were included with a median age of 55 years. The overall incidence of skin reactions was 39% (n = 18). Sex, age, history of atopy, history of drug reactions, or dose of cytarabine used, were not associated with them. Skin reactions were observed from 2 to 8 days after treatment started. Considering injury degree: 27.8% had grade 1, 38.9% grade 2 and 33.3% grade 3. We did not find any injury grade 4 or death associated with skin toxicity. As for the type of injury: 55.6% presented macules, 22.2% papules and 22.2% erythema. Lesions distribution was diffuse in 52% of patients, acral in 39.3%, and at flexural level in 8.7%. Adverse cutaneous reactions secondary to the administration of cytarabine are frequent in our service and include some cases with severe involvement. Although these reactions usually resolve spontaneously, they determine an increased risk of infection and a compromise of the patient quality of life.(AU)

Citarabina y reacciones cutáneas en leucemia aguda mieloide. / [Cytarabine and skin reactions in acute myeloid leukemia].

Cytarabine is an antimetabolite used in the treatment of acute myeloid leukemia (AML). It has many adverse effects as: myelosuppression, toxic reactions involving central nervous system, liver, gastrointestinal tract, eyes or skin. Dermatologic toxicity is often described as rare; nevertheless there are differences in the reported frequency. We performed a retrospective study including all AML treated with chemotherapy that involved cytarabine between 1st July of 2006 and 1st July of 2012; 46 patients were included with a median age of 55 years. The overall incidence of skin reactions was 39

(n = 18). Sex, age, history of atopy, history of drug reactions, or dose of cytarabine used, were not associated with them. Skin reactions were observed from 2 to 8 days after treatment started. Considering injury degree: 27.8

had grade 1, 38.9

grade 2 and 33.3

grade 3. We did not find any injury grade 4 or death associated with skin toxicity. As for the type of injury: 55.6

presented macules, 22.2

papules and 22.2

erythema. Lesions distribution was diffuse in 52

of patients, acral in 39.3

, and at flexural level in 8.7

. Adverse cutaneous reactions secondary to the administration of cytarabine are frequent in our service and include some cases with severe involvement. Although these reactions usually resolve spontaneously, they determine an increased risk of infection and a compromise of the patient quality of life.

Hiperpotasemia severa en emergencia: Manifestaciones clínicas y manejo terapéutico a propósito de tres casos / Severe hyperkalemia in the emergency: Clinical manifestations and therapeutic management on three cases

La hiperpotasemia se define como la elevación del potasio plasmático por encima de 5,5 mEq/L. Es una alteración electrolítica que puede determinar complicaciones clínicas fatales, siendo las más graves las cardiovasculares y musculares. Es consecuencia de una disminución en la eliminación renal del potasio, distribución corporal desde el espacio intracelular al extracelular, o aumento del aporte del ion. Entre los factores que se vinculan a la presencia de repercusiones clínicas está el nivel de hiperpotasemia, la velocidad de su instalación y la coexistencia con otras disionías. Se presentan tres casos de hiperpotasemia severa asistidos en el departamento de emergencia. Presentan como elementos comunes la presencia de alteraciones electrocardiográficas y la necesidad de hemodiálisis para su corrección. La estrategia terapéutica consiste en antagonizar los efectos a nivel de la membrana celular, facilitar el ingreso del potasio al espacio intracelular y remover el exceso corporal del ion. Se destaca la importancia del reconocimiento y diagnóstico precoz de las repercusiones clínicas de la hiperpotasemia en los pacientes con riesgo de presentarla.

ABSTRACT:: Arch Med Interna 2012 - 34(3):91-94 Hyperkalemia is defined as the elevation of serum potassium levels over 5.5 mEq/L. It is an electrolytic disorder that may lead to lethal clinical complications, with cardiovascular and muscular events being the worst. It results from a reduction of potassium excretion by the kidney, body distribution from the intracellular to the extracellular space, or an increased intake or administration of the ion. The clinical impact depends on a number of factors, including the severity of the hyperkalemia, its rate of onset and the co-existence with other ionic imbalances. The paper discusses two patients that sought care at the emergency department with severe hyperkalemia. They both presented with electrocardiographic disorders, and they both required hemodialysis. The therapeutic strategy consists of antagonizing the effects at the level of the cell membrane, facilitating the transfer of potassium into the cell and removing the excessive ion from the body. The authors emphasize the importance of an early detection and diagnosis of the clinical impact of hyperkalemia in the patients at risk of developing the disorder.