Publication: Desarrollo y caracterización de modelos humanizados de síndrome de Netherton para la evaluación preclínica de nuevos abordajes terapéuticos
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2019-11-29
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Universidad Complutense de Madrid
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Abstract
El Síndrome de Netherton (SN) es un trastorno autosómico recesivo que presenta una prevalencia aproximada de 1 de cada 200.000 nacimientos. Los recién nacidos que padecen SN exhiben eritrodermia ictiosiforme congénita generalizada, asociada a una alteración grave de la barrera epidérmica que en algunos casos es mortal, un defecto estructural del pelo denominado trichorrhexis invaginata o pelo de bambú y manifestaciones atópicas de piel. Otras manifestaciones clínicas son retraso del crecimiento, asma, alergias alimentarias y niveles séricos elevados de IgE. Aunque el SN tiene una tasa de mortalidad del 20% durante el primer año de vida, los síntomas pueden mejorar con la edad y generalmente los pacientes acaban desarrollando una condición más leve denominada ictiosis lineal circunfleja...
Netherton syndrome (NS) is an autosomal recessive disorder with an incidence of 1 out of 200.000 births. Newborns suffering from NS exhibit generalized congenital ichthyosiform erythroderma, resulting in severe disruption of epidermal barrier, which is severe and lethal in some cases, a structural hair defect called trichorrhexis invaginata or bamboo hair, and atopic manifestations. Other clinical manifestations include growth retardation, asthma, food allergies and elevated serum levels of IgE. Although NS has a mortality rate of 20% in the first year of life, symptoms may improve with age and gradually evolves into a milder condition known as ichthyosis linearis circumflexa...
Netherton syndrome (NS) is an autosomal recessive disorder with an incidence of 1 out of 200.000 births. Newborns suffering from NS exhibit generalized congenital ichthyosiform erythroderma, resulting in severe disruption of epidermal barrier, which is severe and lethal in some cases, a structural hair defect called trichorrhexis invaginata or bamboo hair, and atopic manifestations. Other clinical manifestations include growth retardation, asthma, food allergies and elevated serum levels of IgE. Although NS has a mortality rate of 20% in the first year of life, symptoms may improve with age and gradually evolves into a milder condition known as ichthyosis linearis circumflexa...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Ciencias Biológicas, Departamento de Bioquímica y Biología Molecular, leída el 29-10-2019