A striking hand phenotype and guselkumab efficacy in <i>NIPAL4</i>-linked autosomal recessive congenital ichthyosis

To our knowledge, we report the first study on the presence of pachydermodactyly and pseudoainhum in two unrelated patients with a NIPAL4-associated autosomal recessive congenital ichthyosis (ARCI), thus expanding the phenotype of this genodermatosis in respect to the digital manifestations. Furthermore, this is the first report on the efficacy of guselkumab as a monotherapy in ARCI, thus adding our experience to current attempts at repurposing available targeted therapies for cornification disorders.