Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab

Pediatr Dermatol. 2019 Nov;36(6):1002-1003. doi: 10.1111/pde.13995. Epub 2019 Sep 18.


Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab.

Keywords: arthropathy; erythroderma; ichthyosis; therapy-systemic.

Publication types

  • Case Reports

MeSH terms

  • Dermatologic Agents / therapeutic use*
  • Homozygote
  • Humans
  • Ichthyosis, Lamellar / drug therapy*
  • Ichthyosis, Lamellar / genetics*
  • Infant
  • Male
  • Mutation, Missense
  • Receptors, Cell Surface / genetics*
  • Ustekinumab / therapeutic use*


  • Dermatologic Agents
  • NIPAL4 protein, human
  • Receptors, Cell Surface
  • Ustekinumab