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Updated: Mar 8, 2026

Cultivating a Three-dimensional Reconstructed Human Epidermis at a Large Scale
Published on: May 28, 2021
[Epidermal barrier - molecular structure and disorders in selected ichthyoses]
Dominika Śniegórska1, Cezary Kowalewski2, Katarzyna Wertheim-Tysarowska1
1Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Abstract:
Ichthyosis is a rare, clinically heterogeneous group of 36 skin diseases with Mendelian inheritance, characterized by disorders of cornification (MeDOC, Mendelian Disorders Of Cornification). Currently there are 35 genes known which mutations are a molecular cause of different MeDOC. They encode proteins involved in the processes of keratinocytes differentiation, lipid synthesis and metabolism and DNA repair. Despite of this high molecular heterogeneity that leads to dysfunction and structure disorder of various epidermal components, the secondary effect of mutations in different genes is similar - disruption of the epidermal barrier and elevated transepidermal water loss. Disturbances in this basic epidermal protective function activate the repair mechanisms within the epidermis and lead i.a. to the primary symptom of MeDOC - hyperkeratosis. In this review we presented the current knowledge of biochemical processes and molecular causes of clinical symptoms based on selected examples of MeDOC.
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