biostudies-literatureUnknown42(6)Sanchez-Espino LFWe report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood.Pediatric dermatology1297-1298https://www.ebi.ac.uk/biostudies/studies/S-EPMC12646972biostudies-literatureErythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene.PMC12646972Sanchez-Espino LFBaselga EArmstrong-Moron JIvars MVicente-Lopez APrat-Torres CfalseErythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene.We report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood.2025-01-01T00:00:00Z2025 Nov-Dec2026-06-05T19:54:11.607Z2026-05-21T03:11:39.543ZS-EPMC126469724047639410.1111/pde.15959