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.
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