Ichthyosis
Mostrando 1-12 de 39 artigos, teses e dissertações.
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1. Annular epidermolytic ichthyosis: a case report and literature review,
Abstract Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who developed migratory, erythematous, scaly plaques associated with palmoplantar keratoderma. The i
An. Bras. Dermatol.. Publicado em: 2020-08
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2. Assistência de enfermagem ao recém-nascido com Ictiose Lamelar: um estudo de caso em unidade neonatal
RESUMO Objetivo: Apresentar os cuidados de enfermagem de um recém-nascido com Ictiose Lamelar internado na unidade de terapia intensiva neonatal de hospital público infantil, em município do estado do Paraná, Brasil. Método: Pesquisa de abordagem qualitativa, metodologia de Estudo de Caso, na qual foi explorado um caso real em sistema delimitado, um e
Rev. esc. enferm. USP. Publicado em: 02/12/2019
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3. Diseases, conditions, and drugs associated with cicatricial ectropion
RESUMO O ectrópio cicatricial pode ser uma consequência de certas doenças sistêmicas, bem como o resultado do uso de drogas. Nosso objetivo aqui foi pesquisar as diferentes causas desta condição, conforme relatado na literatura, incluindo mais recentemente suspeitas de etiologias. Uma pesquisa bibliográfica detalhada do PubMed indicou que muitas etiol
Arq. Bras. Oftalmol.. Publicado em: 20/05/2019
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4. Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
Abstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case
An. Bras. Dermatol.. Publicado em: 2018-02
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5. Epidermolytic Hyperkeratosis - case report
Abstract: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the ski
An. Bras. Dermatol.. Publicado em: 2015-12
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6. Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic. We report the case of a 4-year-old boy wit
An. Bras. Dermatol.. Publicado em: 2015-02
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7. Alfa-hidroxiácidos: aplicações cosméticas e dermatológicas / Alpha-hydroxyacids: cosmetic and dermatologic applications
Nos últimos anos, formulações cosméticas contendo alfa-hidroxiácidos têm sido amplamente utilizadas. Estes produtos, se adequadamente preparados, são utilizados no controle da pele seca, ictiose, acne e outras condições caracterizadas por hiperqueratose. Aplicados de várias maneiras, os alfa-hidroxiácidos reduzem significativamente os sintomas da
Publicado em: 2010
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8. Estudo clinico-molecular e analise da textura epidermica de pacientes com sindrome de Sjogren-Larsson / Molecular genetic study and texture analysis of the epidermis in patients with Sjogren-Larsson Syndrome
Background: Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spasticity. Various mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH) are responsible for the disease but the genotype-phenotype relationships are undefined. Objectives: The purpose of this study
Publicado em: 2006
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9. Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.
The pathological scaling in recessive x-linked ichthyosis is associated with accumulation of abnormal quantities of cholesterol sulfate in stratum corneum (J. Clin. Invest. 68:1404-1410, 1981). To determine whether or not cholesterol sulfate accumulates in recessive x-linked ichthyosis as a direct result of the missing enzyme, steroid sulfatase, we quantitat
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10. A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformation
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11. A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome
A brother and sister are described with a syndrome, not previously reported, of distal arthrogryposis, facial immobility, and generalised ichthyosis.
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12. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.
Activity of the microsomal enzyme, steroid sulfatase, is absent in keratinocytes, fibroblasts, and leukocytes of patients with recessive x-linked ichthyosis. This study was undertaken to determine if cholesterol sulfate, a substrate of this enzyme, accumulates in the pathological scale of these patients. Scales from 8 patients with recessive x-linked ichthyo