In fact, a homozygous single-nucleotide deletion in the 5′ UTR of POMP causes KLICK syndrome, whereas heterozygous frameshift variants in the penultimate exon of POMP result in systemic autoinflammatory diseases (Table 1) (16, 24). The gene discussed is POMP; the disease is keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome.