Inherited Disorders of Corneocyte Proteins
January 2010
in “
Current problems in dermatology
”
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.