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- W4309481536 abstract "Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is an ultra-rare autosomal recessive genodermatosis. Clinical manifestations include linear hyperkeratotic papules in the flexures, palmoplantar keratoderma and pseudoainhum. To date, all affected individuals carry a homozygous mutation, c.-95delC in POMP, which encodes for proteasome maturation protein. Disease pathophysiology is not well understood and there are no approved therapies. However, literature indicates that KLICK syndrome, like some other ichthyoses, may involve uncharacterised inflammatory pathways. Following written consent, a lesional skin biopsy was obtained from a 32-year-old female with KLICK syndrome. Sanger sequencing confirmed the presence of the homozygous 5’ UTR mutation in POMP, and transcriptomic RNA sequencing methods were used to identify key affected pathways. Skin architecture was assessed by histological and immuno-staining. Immunofluorescence microscopy revealed dynamic proliferative keratinocytes, precocious expression of involucrin and loricrin, with retention of loricrin in the stratum corneum. In addition, lymphocytic infiltrates were detected in the upper dermis providing evidence of inflammation. KLICK syndrome can therefore be characterised as a hyperproliferative inflammatory skin disorder. To overcome challenges surrounding limited patient material, induced pluripotent stem cells (iPSCs) were successfully derived from dermal fibroblasts using a non-integrative mRNA-based reprogramming method. Pluripotency was confirmed by immunofluorescent staining and germ-layer formation by tri-lineage differentiation. Patient derived iPSCs will facilitate further research into epithelial dysregulation by organotypic skin modelling. Understanding the pathobiology of KLICK syndrome may yield novel mechanisms driving inflammatory skin disease, which may be therapeutically targetable in patients with currently limited treatment options." @default.
- W4309481536 created "2022-11-28" @default.
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- W4309481536 date "2022-12-01" @default.
- W4309481536 modified "2023-09-26" @default.
- W4309481536 title "206 KLICK syndrome is a hyperproliferative inflammatory skin disorder" @default.
- W4309481536 doi "https://doi.org/10.1016/j.jid.2022.09.217" @default.
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