Abstract
Ichthyoses comprise a broad spectrum of keratinization disorders due to hereditary defects of cornification. Until now, mutations in more than 50 genes, mostly coding for structural proteins involved in epidermal barrier formation, have been identified as causes for different types of these keratinization disorders. However, due to the high heterogeneity and difficulties in the establishment of valid experimental models, research in this field remains challenging and translation of novel findings to clinical practice is difficult. In this review, we provide an overview of existing models to study hereditary cornification defects with focus on ichthyoses and palmoplantar keratodermas.
Highlights
Hereditary disorders of cornification (DOC) bear a great burden to affected individuals, and due to their low frequency, studies in humans are scarce
In settings involving small animal models, the early onset of postnatal death makes the study of long-term complications difficult
Interspecies differences in structural composition and physiological function of the epidermis further complicate the translation of findings of experimental in vivo models to clinical settings
Summary
The spectrum of hereditary disorders of cornification (DOC) consists of a variety of rare genodermatoses, such as ichthyoses and palmoplantar keratodermas [1,2] For many of these diseases, the underlying pathological causes have been identified. Most frequently, these disorders develop due to monogenic alterations in genes important for the establishment or maintenance of a functional epidermal barrier. Ichthyoses represent a large and heterogeneous group of hereditary DOC [6] They are classified by inheritance patterns, their underlying pathomechanisms, and clinical features, and can be divided into syndromic and non-syndromic forms [7]. Netherton syndrome (NS), a syndromic form of ichthyosis, is caused by loss of function mutation in the serine protease inhibitor of Kazal type 5-gene (SPINK5, OMIM #256500) [13].
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