Ictiosis Lamelar autosómica recesiva: revisión de la literatura y caso clínico / Autosomal recessive lamellar ichthyosis: review of the literature and clinical case

Resumen Las ictiosis congénitas autosómicas recesivas (ICAR) son poco frecuentes a nivel mundial con una incidencia de 1:300,000 nacimientos, se caracterizan por trastornos de la queratinización, entre sus variantes engloban las formas no sindrómicas de ictiosis, como la ictiosis laminar (IL), la eritrodermiaictiosiforme congénita (EIC) y actualmente se incluyen la ictiosis arlequín, el bebé colodión autorresolutivo, el bebé colodión autorresolutivoacral y la ictiosis en traje de baño. Desde el punto de vista genético son heterogéneas, originadas por una mutación en el gen de la transglutaminasa 1 y se las haasociado a TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 y ABCA12. Clínicamente, la ictiosis se caracteriza principalmente por piel gruesa, escamas laminares adherentes con hendiduras profundas. En este trabajo pretende revisar los conocimientos actuales en el campo de las ICAR, incluyendo aspectos clínicos, histológicos, ultraestructurales, genético-moleculares, tratamiento,y también su manejo clínico.

Abstract The autosomal recessive congenital ichthyosis (ARCI) is a rare worldwide condition with an incidence of (1: 300,000 births), characterized by disorders of keratinization, among its variants encompass the non-syndromic forms of ichthyosis, such as laminar ichthyosis (IL) , congenital ichthyosiform erythroderma (EIC) and currently include harlequin ichthyosis, self-healing colodion baby, acral self-healing colodion baby and ichthyosis in swimsuits. From a genetic point of view, they're heterogeneous, originated by a mutation in the gene of transglutaminase 1 and associated with TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 and ABCA12. Clinically, ichthyosis is mainly characterized by thick skin, adherent lamellar scales with deep clefts. The aim of this work is to review the current knowledge in the field of ICAR, including clinical, histological, ultrastructural, genetic-molecular and therapeutic aspects as well as its clinical management.

Dermatitis atópica: Pitiriasis alba. A propósito de un caso / Atopic Dermatitis: Pityriasis Alba. A clinical case

RESUMEN La Pitiriasis alba es una enfermedad cutánea inespecífica de etiología desconocida, caracterizada por máculas hipocrómicas, redondeadas u ovaladas poco delimitadas y cubiertas con escamas finas que ocurren usualmente en la región facial de los niños. Fue descrita por Gilbert en 1860 y Fox en 1923, pero fue O'Farrell en 1956 quien propuso el nombre de Pitiriasis alba. La condición dermatológica con la que suele asociarse es la dermatitis atópica. La presencia de Pitiriasis alba fue definida como uno de los criterios menores para el diagnóstico de Dermatitis atópica, según Hanifin y Rajka en 1980. Sin embargo, también se presenta en 20-40% de los niños atópicos, sin evidencia de Dermatitis atópica, así como en individuos no atópicos. La disfunción de la barrera epitelial causada por mutaciones del gen de la filagrina, proteína estructural epidérmica, que forma parte del factor humectante natural, se considera un factor de riesgo emergente para la Dermatitis atópica severa de comienzo precoz. Se presenta un caso de Pitiriasis albaen el que fue necesaria terapia combinada tópica y vía oral, con evolución satisfactoria en 8 semanas de tratamiento.

SUMMARY Pityriasis Alba is a non-specific skin disease of unknown etiology characterized by hypochromic macules, rounded or oval, poorly defined and covered with fine scales that usually occur in the facial region of children. It was described by Gilbert in 1860 and Fox in 1923, but it was O'Farrell in 1956 who proposed the name Pityriasis alba. The dermatological condition with which it is usually associated is Atopic dermatitis. The presence of Pityriasis alba was defined as one of the minor criteria for the diagnosis of Atopic dermatitis, according to Hanifin and Rajka in 1980. However, it also occurs in 20-40% of atopic children, without evidence of Atopic dermatitis, as well as in non-atopic individuals. Epithelial barrier dysfunction caused by mutations of the filaggrin gene, epidermal structural protein, which is part of the natural humectant factor, is considered an emerging risk factor for severe early onset Atopic dermatitis. We present a case of Pityriasis alba where combined topical and systemic therapy was necessary with satisfactory evolution in 8 weeks of treatment.

Tiña de la cabeza / Tineacapitis

RESUMEN La tiña de la cabeza (tineacapitis) es una dermatofitosis del cuero cabelludo frecuente en niños. Es la más común de todas las micosis cutáneas en este grupo de edad a nivel mundial, y es muy rara en adultos. Se ha considerado unproblema de salud pública importante durante décadas.Algunos de los factores asociados son higiene personal deficiente, hacinamiento y bajo nivel socioeconómico.El agente etiológico frecuentemente aislado fue elMicrosporumcanis con un 82,09 %, seguido por Trichophytontonsurans con 17,91%. Enconclusión,la tineacapitis ocupa un lugar preponderante que merece ser estudiado,siendo necesarios la detección y tratamiento precoz para evitar complicaciones.Se presenta un caso de tineacapitis, en el que se evidencia clínicamente infección micótica por Microsporumcanis.

SUMMARY Ringworm of the head (tinea capitis) is a frequent dermatophytosis of the scalp in children. In fact, it is the most common of all cutaneous mycosis in this age group worldwide, being very rare in adults. It has been considered an important public health problem for decades, of the factors associated are: poor personal hygiene, overcrowding and low socioeconomic level. The most frequently isolated etiologic agent was Microsporumcanis with 82.09% followed by Trichophyton tonsurans with 17.91% In conclusion tinea capitis occupies a preponderant place that deserves to be studied, being necessary the detection and early treatments to avoid complications.A case of tinea capitis is presented, where there is clinically evidence of fungal infection by Microsporumcanis.

Liquen Plano Pigmentado:a propósito de un caso / Flat LichenPigmented:Clinical case

RESUMEN El Liquen Plano Pigmentado es una dermatosis crónica frecuente de etiología aún desconocida, caracterizada clínicamente por la presencia de pápulas purpúreas, poligonales, pruriginosasdistribuidas en forma simétrica. ElLiquen Plano Pigmentado representa una de todas las variantes clínicas, cuya característica histológica distintiva es la incontinencia de pigmento melánico. Su curso es autolimitado pues se resuelve en un período de meses a años, pero puede persistir indefinidamente. Existen múltiples opciones de tratamiento, que incluyen corticoides tópicos, intralesionales y sistémicos, retinoides, fototerapia, inmunomoduladores tópicos y, en casos graves o resistentes al tratamiento, la ciclosporina, metotrexato. La dermatoscopía es una técnica auxiliar de diagnóstico no invasivaque permite incrementar la certeza diagnóstica en diversasenfermedades cutáneas; en el caso del Liquen Plano Pigmentado se observa la lesión clásica que consiste en una pápula poligonal aplanada, de tonalidad eritemato-violácea que suele tener finas escamas adherentes en la superficie,denominadasestrías de Wickham, queconsisten en estructuras polimórficas blanquecinas y que corresponden histológicamente a zonas de ortoqueratosis.Es una herramienta de gran utilidad para el diagnóstico de estas lesiones.

ABSTRACT The Pigmented Flat Lichen is a frequent chronic dermatosis of etiology still unknown, clinically characterized by the presence of purpuric, polygonal, pruritic papules distributed symmetrically. The Pigmented Flat Lichen represents one of all clinical variants, where the distinctive histological feature is melanin pigment incontinence. Its course is self-limited, it resolves over a period of months to years, but it can persist indefinitely. There are multiple treatment options that include topical, intralesional and systemic corticosteroids, retinoids, phototherapy, topical immunomodulators and in severe or resistant cases to treatment, cyclosporine, methotrexate. Dermatoscopy is a non-invasive diagnostic auxiliary technique that allows accelerating diagnostic certainty in various skin diseases; in the case of the Pigmented Flat Lichen, the classic lesion is observed, consisting of a flattened polygonal papule, with an erythematous-violet hue that usually has fine adherent scales on the surface, called Wickham striae, which consists of whitish polymorphic structures and that corresponds histologically to areas of orthokeratosis. It is a very useful tool for the diagnosis of these lesions.

Abundance, biting behaviour and parous rate of anopheline mosquito species in relation to malaria incidence in gold-mining areas of southern Venezuela.

A longitudinal entomological and epidemiological study was conducted in five localities of southern Venezuela between January 1999 and April 2000 to determine the abundance, biting behaviour and parity of anopheline mosquitoes (Diptera: Culicidae) in relation to climate variables and malaria incidence. A total of 3685 female anopheline mosquitoes, representing six species, were collected. The most abundant species were Anopheles marajoara Galvão & Damasceno (60.7%) and Anopheles darlingi Root (35.1%), which together represented 95.8% of the total anophelines collected. Abundance and species distribution varied by locality. Malaria prevalence varied from 12.5 to 21.4 cases per 1000 population. Transmission occurred throughout the year; the annual parasite index (API) for the study period was 813.0 cases per 1000 population, with a range of 71.6-2492 per 1000 population, depending on locality. Plasmodium vivax (Grassi & Feletti) (Coccidia: Plasmodiidae) accounted for 78.6% of cases, Plasmodium falciparum (Welch) for 21.4% and mixed infections (Pv+Pf) for < 0.1%. Anopheles marajoara and An. darlingi were more abundant during the rainy season (April-September). There was no significant correlation (P > 0.05) between mosquito abundance and rainfall. Correlations between malaria incidence by parasite species and mosquito abundance were not significant (P > 0.05). Monthly parous rates were similar for An. marajoara and An. darlingi throughout the year, with two peaks that coincided with the dry-rainy transition period and the period of less rain. Peaks in the incidence of malaria cases were observed 1 month after major peaks in biting rates of parous anophelines. Anopheles darlingi engages in biting activity throughout the night, with two minor peaks at 23.00-00.00 hours and 03.00-04.00 hours. Anopheles marajoara has a different pattern, with a biting peak at 19.00-21.00 hours and 76.6% of biting occurring before midnight. Although both vectors bite indoors and outdoors, they showed a highly significant (P < 0.01) degree of exophagic behaviour. The present study constitutes the first effort to characterize the bionomics of anophelines in malaria endemic foci in different ecological situations in relation to malaria transmission in southern Venezuela and to provide relevant information to be considered when planning and implementing vector control programmes.

The combined effects of heavy metals (copper and zinc), temperature and food (Chlorella vulgaris) level on the demographic characters of Moina macrocopa (Crustacea: Cladocera).

In this work we evaluated the effect of temperature (22 degrees and 27 degrees C), algal density (Chlorella vulgaris 0.5 x 10(6) and 2.0 x 10(6) cells/mL) and different combinations of 2 heavy metals (Zn at 25.25-101.0 microg/L and Cu at 17.75-71.0 microg/L) on the population level variables of Moina macrocopa. Median lethal concentration (24 h bioassay at 1 x 10(6) cells/mL of algal diet) of Zn and Cu for M. macrocopa were 1010 microg/L and 710 microg/L, respectively. In the survivorship curves at 27 degrees C there was a reduction in the survival of cladocerans exposed to Cu compared to controls or Zn. The fecundity curves (m(x)) indicated a steady reproductive output throughout the life span of M. macrocopa, but the negative impact of copper was more than that of zinc. Reproductive phase of M. macrocopa was longer at 22 degrees C than at 27 degrees C. The average lifespan was higher at 22 degrees C and at the higher food level. It was significantly affected by temperature, food level and toxicant concentration, as well as their interaction. The net reproductive rate was also influenced by food and temperature but not by the toxicant level. The generation time ranged between 4-8 days and was lower at 27 degrees C. The population growth rate (r) derived from life table experiments varied from 0.6 to 0.9 per day, depending on the treatment. Regardless of the toxicant level, at 22 degrees C, the population growth was higher at the higher food level. In treatments containing only Cu, the population growth of M. macrocopa was lower than when present together with Zn. Peak population densities of around 30 ind./mL were reached under high food conditions. Higher temperature and lower food level had an adverse effect on M. macrocopa in treatments containing only Cu. In the presence of higher food density, the adverse impact of copper was not evident. The r derived from growth study ranged from 0.25 to 0.64 per day depending on the test conditions. Data were interpreted in terms of sensitivity M. macrocopa for its possible use as a complement, but not as an alternative to Daphnia magna for evaluating the toxicity of heavy metals.

Anopheles (Anopheles) neomaculipalpus: a new malaria vector in the Amazon basin?

Anopheles (Anopheles) neomaculipalpus Curry (Diptera: Culicidae) collected by human landing catches and light traps in southern Venezuela were assayed by enzyme-linked immunosorbent assay (ELISA) for detection of Plasmodium circumsporozoite (CS) protein. A total of 356 An. neomaculipalpus were collected, of which three (0.84%) were positive for P. vivax, two for the variant 247 and one for the variant 210. The overall sporozoite rate in An. neomaculipalpus was similar to that for the principal vector An. (Nyssorhynchus) darlingi Root (0.82%) and higher than in An. (Nys.) marajoara Galvão & Damasceno (0.27%). This is the first report of An. neomaculipalpus naturally infected with Plasmodium parasites in Venezuela.

In vivo drug resistance of falciparum malaria in mining areas of Venezuela.

The Lot Quality Assurance Double-Sampling Plan (LQADSP) technique was used in three areas, Maripa, Kilómetro 88 and Ikabaru, to assess the efficacy of antimalarials used routinely by the Venezuelan Malaria Programme. The use of chloroquine (25 mg/kg), chloroquine (40 mg/kg) and the combination of sulfadoxine (500 mg) and pyrimethamine (25 mg) registered treatment failures above the threshold level of 25% in Maripa and Kilómertro 88. In Ikabaru the use of chloroquine (40 mg/kg) did not surpass that quality level and could possibly be less than 10%. Quinine (30 mg/kg) was totally effective in curing patients in all three areas. The use of this technique seems adequate for rapid field evaluations and in this case for providing appropriate information to assist this health programme. However, whilst being an ideal technique for surveying areas in which considerable variation may exist among lots and particularly for Plasmodium falciparum infections in these areas, repeated surveys should be carried out in the same areas over time to monitor changes in the susceptibility of this parasite to first-, second- and third-line drugs. In that way, national drug policies can be modified adequately.

Improved outcome for acute lymphoblastic leukemia in children of a developing country: results of the Chilean National Trial PINDA 87.

BACKGROUND: The National Chilean Pediatric Oncology Group, PINDA, reports the first prospective, nonrandomized trial for acute lymphoblastic leukemia (ALL), using a modified version of the Berlin-Frankfurt-Munster protocol (ALL BFM 86). The aim of this study was to classify immunophenotypes, to decrease cranial irradiation, and to assess whether this protocol would improve the survival rate. PROCEDURE: From June, 1987, to June, 1992, 444 unselected children were diagnosed with ALL. Of them, 425 were evaluable. Therapy was stratified by risk. Standard-risk (SR) and high-risk (HR) patients received protocols I, M, II, and maintenance therapy. Very-high-risk (VHR) patients received protocol E instead of protocol M. All patients received a prephase treatment consisting of prednisone and intrathecal methotrexate (MTX). HR and VHR patients received cranial irradiation (12-18 Gy). The following changes were made to the ALL BFM 86 protocol: in protocol M, MTX 1 g/m2 instead of 5 g/m2; in protocol E, citarabine 1 g/m2 instead of 2 g/m2; mithoxantrone and ifosfamide were substituted by teniposide and cyclophosphamide. RESULTS: Immunophenotypes: pro-B-ALL, 14%; common ALL, 67.4%; pre-B-ALL, 4.3%; T-ALL, 10%; undifferentiated leukemia (AUL), 4.3%. The overall 5-year event-free survival (EFS) rate was 60% +/- 2% (SE). The 5-year EFS rate for each risk group was: SR 75%, HR 62%, VHR 28%, with a median follow-up of 6.5 years (range 4.5-9.5 years). The cumulative incidence of central nervous system (CNS) relapse was 5.4%. CONCLUSIONS: We have been able successfully to perform a nationwide study. Our strategy to adapt the BFM protocol to our population of patients trial was effective in improving the EFS. The immunophenotype distribution is similar to that in other reported series.

Evaluación de la efectividad de la combinación de solución hipertónica, hiperoncótica, naloxona y aceptadores de radicales de oxígeno libres, para el tratamiento del choque hipovolémico en el perro / Efficacy of a hypertonic and hyperoncotic solution, naloxone and oxigen free radicals in the hypovolemic shock treatment in the dog

Durante el choque hipovolémico, se producen alteraciones que contribuyen al deterioro progresivo de la homeostasis circulatoria, además de ser influenciadas por la edematización de células endoteliales, los radicales de oxígeno libres, que se producen durante la isquemia y en mayor cantidad durante la perfusión y por la liberación de endorfina. Para valorar hasta qué punto puede resolverse el estado de choque contrarrestando estos factores, se indujo hipovolemia por extracción de sangre a veinte perros que fueron mantenidos con una presión arterial media de 50 mm/Hg durante 20 minutos, después de lo cual se administraron diferentes medicamentos con el objetivo de evaluar su efectividad para restablecer la estabilidad circulatoria. Los animales fueron divididos en cuatro grupos. A los del grupo 0 se les administró solución hipertónica Dextrán 60, NaCI 7.5 por ciento; a los animales del grupo 1 se les administró solución hipertónica, hiperoncótica y naloxona, antagonista de receptores de opioides. A los del grupo II, se les aplicó una solución hipertónica, hiperoncótica y superoxidodismutasa (SOD) y catalasa (CAT), y enzimas aceptadoras de radicales libres de oxígeno (PEG). A los del grupo III se les administró una combinación de estos medicamentos, esto es, dosis combinadas de naloxona, SOD, CAT y solución hipertónica hiperoncótica (SHH). Se manejó un grupo de animales que fue sometido a choque hipovolémico durante el mismo tiempo, a los que no se les administró ningún medicamento. Los resultados evidencian la capacidad de la SHH para elevar la presión arterial mediante y el gasto cardiaco. La combinación y naloxona produjo un mayor aumento en la presión arterial media y el gasto cardiaco, durante un periodo de 40 minutos. No se manifestó un efecto terapéutico diferente en los grupos tratados con enzimas. La recuperación del gasto cardiaco y de la presión arterial media y por tanto del nivel de perfusión tisular en el grupo testigo, fue deficiente en comparación con los grupos tratados. Se concluye que la combinación de solución hipertónica, hiperoncótica con naloxona, fue la combinación más efectiva de las analizadas para elevar la presión arterial media y el gasto cardiaco en perros sometidos a choque hipovolémico durante periodos de 90 minutos

[Von Willebrand's disease in the IX Region of Chile]. / Enfermedad de von Willebrand en la IX Region de Chile.

Bleeding disorders are frequent indications for reference to Hematologic Clinics. Won Willebrand's disease (vWD) is one of the commonest of inheritable hemorrhagic diathesis. In order to evaluate the frequency and clinical characteristics of vWD in the IX Region of Chile, we performed a clinical and laboratory investigation in 132 patients, children and adults, over a period of 3 years: 1983-1985. Within this group there was 26 close relatives. The laboratory tests used for the diagnosis were: bleeding time, factor VIII, von Willebrand factor and ristocetin cofactor. Diagnosis of vWD was made in 83 cases, most of them presenting the mild form of the disease. Two children had the severe form. The estimated prevalence of vWD in symptomatic patients in the IX Region of Chile is at least 113 per million, which makes it 3 or 4 times more frequent than hemophilia. vWD is observed at a much lower rate in mapuche than in caucasian population. The symptoms and their frequency were: post partum bleeding 75%, dental extraction bleeding 65%, surgical bleeding 65%, epistaxis 63%, menorrhagia 54%, easy bruising 45%, deep hematomas 8% and petechiae 5%. Five cases were asymptomatic. The bleeding time was the test most frequently abnormal: 72/83 cases (87%).

Estudio de laboratorio del complejo F VIII plasmático en 181 pacientes con problemas hemorragíparos: IX región / Laboratory studies of plasma factor VIII complex in patients with haemorrhagic problems in Chile's IX region

El propósito del presente trabajo es proporcionar información sobre el comportamiento del F VIII plasmático en 181 pacientes con antecedentes hemorragíparos de la IX región, estudiados en nuestro laboratorio entre los años 1983 y 1987; además presentar la frecuencia de la enfermedad de Von Willebrand (EvW) en relación a las otras coagulopatías. Los paràmetros de laboratorio que analizamos fueron: T.S.Ivy, F VIII:C, FvW:Ag y F VIII:CoR. Obtuvimos un 72,4% de pacientes con alteraciones en los estudios. De este grupo, 84,7% correspondió a EvW, 12,2% a Hemofilias y 3,1% a disfunción plaquetaria mínima. Del grupo vW (n=111) el 46,8% correspondió a adultos y 53,2% a niños. Encontramos el T.S. prolongado 86,5% en adultos y 84,8% en niños; F VIII:C disminuido en adultos y niños 57,7% y 50,9%, respectivamente; FvW:Ag disminuido en ambos grupos 53,8 y 52,5%; F VIII:CoR disminuido 75% adultos y 71,2% niños. Aplicamos el coeficiente de Pearson revelando correlación significativa (p<0,01), en relación al F VIII:C/FvW:Ag y T.S./F VIII:CoR en adultos; hubo sólo correlación entre el estudio del F VIII:C/FvW:Ag en los niños. Concluimos que la EvW es la afección hereditaria de la hemostasis más frecuente, presentando gran variabilidad los resultados de los exámenes, por lo que es fundamental realizar el estudio del F VIII completo para lograr un diagnóstico inequívoco de laboratorio en este grupo de pacientes

Cell markers and acute leukaemia subtypes in Chile.

A panel of monoclonal antibodies were used to define acute myeloblastic leukaemia (AML) and acute lymphoblastic leukaemia (ALL) with its different subgroups. Thirty-three patients were studied in a period of one year. ALL was diagnosed in 80% of the children and 20% of the adults. AML was present in 22% of the children and 78% of adults. In children, only one of seven was common ALL, three of seven were T-ALL and three of seven were B-ALL. Five of 12 were unclassifiable (U-ALL). In adults the 4 ALL were U-ALL.