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Ichthyosis molecular fingerprinting shows profound Th17-skewing and a unique barrier genomic signature

The Journal of Allergy and Clinical Immunology May 31, 2018

Malik K, et al. - Given that comprehensive molecular phenotyping of ichthyotic skin could suggest much-needed pathogenesis-based therapy, researchers tried to profile the molecular fingerprint of the most common orphan ichthyoses. Study participants were patients with congenital ichthyosiform erythroderma/CIE, lamellar ichthyosis/LI, epidermolytic ichthyosis/EI, or Netherton syndrome/NS. Age-matched healthy controls, psoriasis, and atopic dermatitis/AD patients were also included. Skin and blood samples were taken from all participants and gene, protein, and serum studies were performed. They found that the ichthyoses were characterized by psoriasis-like immune dysregulation and lipid alterations; similar to AD and psoriasis where cytokine dysregulation and barrier impairment orchestrate disease phenotypes. Similar to psoriasis, the testing of IL-17/IL-36-targeted therapeutics for ichthyosis patients was supported.
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