Recent advances in understanding inherited disorders of keratinization [version 1; peer review: 4 approved]

The ichthyoses are a heterogeneous group of skin diseases characterized by localized or generalized scaling or both. Other common manifestations include palmoplantar keratoderma, erythroderma, recurrent infections, and hypohidrosis. Abnormal barrier function is a cardinal feature of the ichthyoses,...

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Bibliographic Details
Published in:F1000 research 2018, Vol.7, p.919
Main Authors: Zaki, Theodore, Choate, Keith
Format: Article
Language:English
Subjects:
Biosynthesis
Ceramide
Cloning
Congenital diseases
Dehydrogenases
Enzymes
Fatty acids
Hereditary diseases
Keratinization
Lipids
Metabolism
Microscopy
Mutation
Palmoplantar keratoderma
Pathogenesis
Proteins
Review
Scaling
Skin
Skin diseases
Stratum corneum
Water loss
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Summary:The ichthyoses are a heterogeneous group of skin diseases characterized by localized or generalized scaling or both. Other common manifestations include palmoplantar keratoderma, erythroderma, recurrent infections, and hypohidrosis. Abnormal barrier function is a cardinal feature of the ichthyoses, which results in compensatory hyperproliferation and transepidermal water loss. Barrier function is maintained primarily by the stratum corneum, which is composed of cornified cells surrounded by a corneocyte lipid envelope and intercellular lipid layers. The lipid components are composed primarily of ceramides. Human genetics has advanced our understanding of the role of the epidermal lipid barrier, and a series of discoveries in animals and humans revealed mutations in novel genes causing disorders of keratinization. Recently, next-generation sequencing has further expanded our knowledge, identifying novel mutations that disrupt the ceramide pathway and result in disorders of keratinization. This review focuses on new findings in ichthyoses caused by mutations involving lipid synthesis or function or both.
ISSN:2046-1402
2046-1402
DOI:10.12688/f1000research.14514.1