Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby

Pediatr Dermatol. 2016 Mar-Apr;33(2):e48-51. doi: 10.1111/pde.12740. Epub 2015 Dec 9.


Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self-healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self-improving collodion ichthyosis (SICI) has been proposed for these patients. SHCB/SICI was initially associated with mutations in the gene TGM1. However, some cases showing ALOX12B and ALOXE3 gene mutations have also been reported. We report two cases of SHCB/SICI showing homozygous mutations in the gene CYP4F22.

Publication types

  • Case Reports

MeSH terms

  • Cytochrome P-450 Enzyme System / genetics*
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Homozygote
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Ichthyosis, Lamellar / complications
  • Ichthyosis, Lamellar / genetics*
  • Infant
  • Infant, Newborn
  • Male
  • Mutation*
  • Polymerase Chain Reaction


  • Cytochrome P-450 Enzyme System
  • CYP4F22 protein, human

Supplementary concepts

  • Self-Healing Collodion Baby