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Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene.

ABSTRACT: 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.

SUBMITTER: Sanchez-Espino LF 

PROVIDER: S-EPMC12646972 | biostudies-literature | 2025 Nov-Dec

REPOSITORIES: biostudies-literature

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Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene.

Sánchez-Espino Luis Fernando LF   Ivars Marta M   Vicente-López Asunción A   Prat-Torres Carolina C   Armstrong-Morón Judith J   Baselga Eulalia E  

Pediatric dermatology 20250606 6

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. ...[more]

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