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Open Access Publications from the University of California

Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma

  • Author(s): Austin Smith, Wallace
  • Cope, Austin
  • Fernandez, Martin
  • Parekh, Palak
  • et al.
Creative Commons 'BY-NC-ND' version 4.0 license

Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age.  Genotype analysis was performed on the newborn child who was found to harbor a mutation in the keratin 1 gene. This family demonstrates the phenotypic expression of PPK associated with keratin 1 gene mutations and illustrates the importance of genotype-phenotypecorrelation in this disorder.

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