research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
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5 / 29 resultsresearch Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
This review discusses unspecific factors involved in the pathogenesis of skin diseases and potential ways cytokeratin changes might alleviate these conditions, but reports no new clinical results.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
research Management of congenital ichthyoses: European guidelines of care, part two
These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.
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