Sökning: "Epidermolytic Hyperkeratosis"

Hittade 3 avhandlingar innehållade orden Epidermolytic Hyperkeratosis.

  1. 1. In vitro Studies of Genodermatoses Affecting Cytoskeletal Integrity and Lipid Processing in Human Epidermis : Pathogenic Mechanisms and Effects of Retinoid Therapy

    Författare :Hao Li; Hans Törmä; Anders Vahlquist; Mikael Ivarsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Congenital Ichthyosiform Erythroderma; Epidermolytic Hyperkeratosis; Ceramides; Keratins; Retinoids; Molecular Probe Techniques; Transglutaminases; Lipoxygenases; Fatty Acid Transporter Proteins; Keratinocytes; Epidermis; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Autosomal dominant epidermolytic ichthyosis (EI) is a rare disease characterized by intra-epidermal blistering due to mutations in either of two keratin genes, KRT1 and KRT10, expressed by suprabasal keratinocytes. Autosomal recessive congenital ichthyosis (ARCI) is a non-blistering, hyperkeratotic disease caused by mutations in one of the following genes: ABCA12, ALOX12B, ALOXE3, TGM1, CYP4F22, NIPAL4 and SLC27A4, which are all essential for skin barrier homeostasis. LÄS MER

  3. 2. On keratin mutations in epidermolytic hyperkeratosis and the regulation of keratin expression by retinoids

    Författare :Marie Virtanen; Uppsala universitet; []
    Nyckelord :Medical sciences; EHK; keratin; retinoids; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Dermatology and Venerology; dermatologi och venereologi;

    Sammanfattning : Epidermolytic hyperkeratosis is a rare inherited disease of the skin caused by a dominant-negative mutation in keratin 1 (K1) or 10 (K10). Keratins are the major structural protein in epidermis and mutations causes instability of intermediate filament and keratinocyte fragility. LÄS MER

  4. 3. Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life

    Författare :Agneta Gånemo; Åke Svensson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Dermatology and venereology; Ichthyosis; congenital ichthyosis; genodermatoses; skin disease; quality of life; topical treatment; lactic acid; propylene glycol; Dermatologi och venerologi; Dermatology and venerology; Dermatologi och venerologi; Dermatology and Venerology; dermatologi och venereologi;

    Sammanfattning : Hereditary ichthyosis is a collective name for many dry and scaly skin disorders ranging in frequency from common to very rare. The main groups are autosomal recessive lamellar ichthyosis, autosomal dominant epidermolytic hyperkeratosis and ichthyosis vulgaris, and x-linked recessive ichthyosis. LÄS MER