Anders Vahlquist, Hans Törmä
DOI: 10.2340/00015555-3433

The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of more than 50 types of ichthyosis have almost invariably uncovered errors in the biosynthesis of epidermal lipids or structural proteins essential for normal skin barrier function. The barrier abnormality per se may elicit epidermal inflammation, hyperproliferation and hyperkeratosis, potentially contributing to the patient’s skin symptoms. Despite this and other new knowledge about pathomechanisms, treatment of ichthyosis often remains unsatisfactory. This review highlights a series of approaches used to elucidate the pathobiology and clinical consequences of different types of ichthyosis, and related diseases with the ultimate goal of finding new and better treatments.

Ichthyosis refers to skin diseases with scaling somewhat reminiscent of fish scales (Greek: ichthus=fish). There are more than 50 genetic types of, mostly non-syndromic, ichthyosis, ranging in severity and frequency from mild and common (prevalence < 1%) to severe and rare (< 0.001%). In the latter case, babies are often born with a thick horny layer (collodion), dermal inflammation and impaired skin barrier function, requiring intensive medical care. Nearly all patients with ichthyosis require daily applications of cream, sometimes complemented with retinoid tablets. This review highlights recent progress in the understanding of the causes and consequences of ichthyosis, which may lead to better care and treatments.

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