Disorders of Keratinization
January 2004
in “
American journal of clinical dermatology
”
TLDR Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
The document "Disorders of Keratinization" reviewed various genetic and acquired conditions affecting keratinization, such as ichthyosis and palmoplantar keratoderma. It discussed the molecular basis of these disorders, including mutations in keratin genes and their impact on skin barrier function. The review highlighted the role of epidermal lipids in maintaining skin hydration and the effectiveness of treatments like topical retinoids and moisturizers. It also covered the clinical spectrum and management strategies for these conditions, emphasizing the importance of understanding genotype-phenotype correlations for better diagnosis and therapy.