نتایج جستجو برای: bullous ichthyosiform erythroderma
تعداد نتایج: 15264 فیلتر نتایج به سال:
Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires we...
The phase diagram for diblock copolymer melts is evaluated from lattice-based Monte Carlo simulations using parallel tempering, improving upon earlier simulations that used sequential temperature scans. This new approach locates the order-disorder transition (ODT) far more accurately by the occurrence of a sharp spike in the heat capacity. The present study also performs a more thorough investi...
Background: The case we are reporting is about one of the rare manifestations severe combined immunodeficiency, Omenn syndrome (OS). Case presentation: A 43-days-old female presented with thick diffuse erythrodermic scaly ichthyosiform lesions on scalp, face, and trunk since birth. lymphadenopathy, splenomegaly, growth retardation as well eosinophilia increased serum IgE levels. pregnancy was p...
Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in the KRT10 gene. The disease manifests at birth with erythroderma and scaling and is characterised by the gradual development of numerous confetti-like spots of normal skin. Diagnosis of IC is frequently delayed until adolescence or even adulthood. We report 2 young children who were first diagnos...
Hereditary ichthyosis is a group of generalized hereditary keratinization disorders characterized by general dryness the skin, peeling, hyperkeratosis and often erythroderma. These manifestations are caused mutations in genes mainly involved formation skin barrier. divided into syndromic non-syndromic. Nonsyndromic ichthyoses include: vulgar ichthyosis, recessive X-linked autosomal congenital k...
Netherton syndrome is a rare autosomal recessive condition with variable expression. It comprises an ichthyosiform dermatitis and erythroderma of variable intensity associated with hair abnormalities and features of atopy. The pathognomic (required for diagnosis) feature is trichorrhexis invaginata identified by microscopic examination of hair shaft. Ichthyosis linearis circumflexa is ano...
Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy sho...
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