Molekularne podłoże keratynopatii

Keratin disorders are a group of rare bullous skin diseases. They are caused by mutations in genes encoding keratins - the main structural proteins of intermediate filament cytoskeleton of epithelial cells and also one of the major components of hair and nails. Different pairs of keratins are the expressed depending on the skin layer, thus variability in the course of keratinopathies is observed. This disorders are inherited in autosomal dominant pattern mostly. Mutations occur in different regions of the keratin genes. In most of these diseases correlation between the location of mutations, and the severity of clinical symptoms can be observed. The most common keratin disorder is epidermolysis bullosa simplex (EBS), which is caused by mutations in KRT5 and KRT14. These genes are expressed in basal layer of epidermal cells. Depending on the effect of the molecular defect in the protein, EB simplex can phenotype of EBS may be highly different - from mild and localized forms, to severe and generalized. Another disease from this group is epidermolytic ichthyosis, which is caused by mutations in KRT1 and KRT10, expressed in epidermal suprabasal cell layer. This paper contains an overview of selected keratin disorders in terms of their molecular pathology. Beside those mentioned above, ichthyosis bullosa of Siemiens, pachyonychia congenita, and Dowling-Degos disease are also described.