Sökning: "X-linked recessive ichthyosis"

Hittade 3 avhandlingar innehållade orden X-linked recessive ichthyosis.

  1. 1. 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

  3. 2. Skin Barrier Function and mRNA Expression Profiles in Patients with Atopic Dermatitis, Ichthyosis Vulgaris, and X-linked Recessive Ichthyosis : Aetiopathogenic Differences and the Impact of Moisturizing Treatment

    Författare :Torborg Sturesdotter Hoppe; Berit Berne; Hans Törmä; Anders Vahlquist; Charlotta Enerbäck; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; atopic dermatitis; ichthyosis vulgaris; X-linked recessive ichthyosis; skin barrier function; moisturizers; transepidermal water loss; gene expression; Dermatologi och venereologi; Dermatology and Venerology;

    Sammanfattning : Atopic dermatitis (AD), ichthyosis vulgaris (IV), and X-linked recessive ichthyosis (XLRI) are characterized by dry skin and impaired skin barrier. AD and IV are related to loss-of-function mutations in FLG (encoding filaggrin), whereas XLRI is caused by deletions or inactivating mutations in the steroid sulphatase gene (STS). LÄS MER

  4. 3. Studies on the pH gradient in normal and ichthyotic human skin

    Författare :Hans Öhman; Linköpings universitet; []
    Nyckelord :keratinization; hyperkeratosis; desquamation; filaggrin; cholesterolsulfate; tape stripping; MEDICINE; MEDICIN;

    Sammanfattning : In search for pathogenetic mechanisms underlying hyperkeratosis, we examined the pH gradient across the stratum corneum in normal and ichthyotic skin. Twenty students and employees, (12 men and 8 womenaged 25-69 years) served as controls. Patients with ichthyoses were recruited from the outpatient clinic (13 men aged 12-71 years). LÄS MER