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Ny klassifikation og molekylærgenetisk viden om arvelig iktyose

Rikke Elkjær Andersen1, Jens Michael Hertz2 & Anette Bygum1 1) Hudafdeling I og Allergicentret, Odense Universitetshospital 2) Klinisk Genetisk Afdeling, Odense Universitetshospital Ugeskr Læger 204;176:V11130688
Ugeskr Læger 204;176:V11130688
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New classification and genetic background of inherited ichthyoses
A new classification of inherited ichthyoses is presented based on clinical features, genetic background and pathophysiology. Ichthyoses are disorders of cornification and may be part of syndromes. Ichthyosis vulgaris, X-linked ichthyosis, autosomal recessive congenital ichthyosis and syndrome-related variants are described. Severe forms can be potentially life-threatening. Dry scaly skin can be disabling and time-consuming, as the patient needs topical therapy and sometimes also systemic retinoids. Treatment today is symptomatic, but hopefully new knowledge will lead to targeted therapies.
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