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

Cathryn PoultonDylan GrationKevin MurrayGareth BaynamAnne Halbert
Published in: Pediatric dermatology (2019)
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.
Keyphrases
  • copy number
  • intellectual disability
  • muscular dystrophy
  • case report
  • soft tissue
  • autism spectrum disorder
  • wound healing
  • gene expression
  • dna methylation
  • genome wide