Inherited Disorders of Corneocyte Proteins

    January 2010 in “ Current problems in dermatology
    Peter M. Elias, Mary L. Williams, Debra Crumrine, Matthias Schmuth
    TLDR Ichthyoses are genetic skin disorders that affect the skin's barrier function.
    The book "Inherited Disorders of Corneocyte Proteins" provided an in-depth overview of generalized, inherited disorders of cornification, known as ichthyoses, which are monogenic diseases caused by various genes affecting cellular functions. It emphasized that the clinical phenotype of ichthyoses represents the epidermis's attempt to maintain an impermeable barrier despite metabolic compromises. The book discussed the survival threats and systemic issues like growth failure due to a compromised barrier. It introduced a new consensus classification of these disorders, described their clinical features, and reviewed the latest molecular genetic information. The focus was on disease pathogenesis and key ultrastructural features, making it a valuable resource for dermatologists, pediatricians, clinical geneticists, and dermatopathologists.
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