Search for dissertations about: "epidermolytic ichthyosis"

Found 3 swedish dissertations containing the words epidermolytic ichthyosis.

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

    Author : Agneta Gånemo; Åke Svensson; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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;

    Abstract : 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. READ MORE

  2. 2. Disease-causing Keratin Mutations and Cytoskeletal Dysfunction in Human Skin : In vitro Models and new Pharmacologic Strategies for Treating Epidermolytic Genodermatoses

    Author : Jean Christopher Chamcheu; Anders Vahlquist; Hans Törmä; Harshad Navsaria; Marie Virtanen; Torbjörn Egelrud; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; epidermolysis bullosa simplex; epidermolytic ichthyosis; genodermatoses; keratin; keratin mutation; keratinocytes; gene therapy; pharmacological therapy; immortalization; gene regulation; trimethylamine N-oxide TMAO ; sodium 4-phenylbutyrate 4-PBA ; tissue engineering; cell culture; heat shock proteins; MAP kinases; Dermatology and venerology; Dermatologi och venerologi; Dermatologi och venereologi; Dermatology and Venerology;

    Abstract : Epidermolysis bullosa simplex (EBS) and epidermolytic ichthyosis (EI) are rare skin fragility diseases characterized by intra-epidermal blistering due to autosomal dominant-negative mutations in basal (KRT5 or KRT14) and suprabasal (KRT1 or KRT10) keratin genes,  respectively. Despite vast knowledge in the disease pathogenesis, the pathomechanisms are not fully understood, and no effective remedies exist. READ MORE

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

    Author : Hao Li; Hans Törmä; Anders Vahlquist; Mikael Ivarsson; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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;

    Abstract : 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. READ MORE