Abstract and Introduction
The ichthyoses, also termed the disorders of keratinization, are a heterogenous group of skin diseases in which a distinctive horny layer arises secondary to excessive transepidermal water loss. Although occasionally acquired, the majority of ichthyoses are inherited and can be pinpointed to characteristic genetic mutations. Management depends on disease severity and includes topical agents and lifestyle modifications with or without oral retinoids. Genetic counseling is also an important consideration. This review aims to highlight advances in our understanding of disease pathogenesis as well as the holistic approach necessary to adequately manage ichthyosis patients.
Ichthyoses are an inherited group of skin disorders in which cornified layer accumulation leads to characteristic phenotypic features including xerosis, hyperkeratosis, excessive scaling, keratosis pilaris, and palmar and plantar hyperlinearity. The common manifestations of this heterogeneous group of diseases arise due to abnormal skin barrier function that causes increased transepidermal water loss and a resultant compensatory hyperproliferation. The clinical symptoms of ichthyosis typically present at birth or within the first few years of life. With limited treatment regimens and no current cure, it is important to acknowledge the associated impaired quality of life that patients with lifelong ichthyosis experience. A recent study demonstrated that adults affected with this disorder report diminished quality of life regarding their physical health (impaired appearance of skin and mobility), daily life (cost of disease), and relationships with others and oneself (negative reaction of others to disease). In the following brief review, we aim to update advances in understanding the pathophysiology and management of ichthyosis.
Skin Therapy Letter. 2020;25(1):5-7. © 2020 SkinCareGuide.com