The autosomal recessive congenital ichthyoses are a family of related diseases causing a severe defect in the barrier function of the epidermis. Neonates are usually born as collodion babies, but later form scales characteristic of the disease, due to a combination of thickening of the cornified layer and an increase in the production of non-polar lipids. Current treatments of choice are exfoliative creams and moisturizing agents and the use of oral retinoids. The skin condition and treatment impact significantly on quality of life and, with oral retinoids, there are potential complications associated with long-term use. The authors created an in vitro organotypic culture model that closely mimics the disease. Interleukin-1 alpha (IL1A) expression was increased and there was a lack of loricrin cross-linking. All patients tested had an increased IL1A and treatment of wild-type organotypic cultures with IL1A was sufficient to induce hyperkeratosis. Treatment of disease mimic organotypic cultures with IL-1 receptor antagonist led to a dose-dependent decrease in hyperkeratosis without a reduction in non-polar lipids in the cornified layer, which has the potential to reduce scaling without the requirement to constantly apply emollients.
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Hum Mol Genet ; 2594-2605 ; 1 July 2010