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High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.

Leonie FrommherzA KrauseJ KoppA HotzS HübnerAntonia ReimerF CasettiB ZirnJ FischerCristina Has
Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2021)
Congenital ichthyosis that self-improves and evolves with mild fine scaling ichthyosis was the most common phenotype observed in our patients. This type might be underdiagnosed if the genetic diagnosis is not performed in the first year of life. mIASI is an easy and fast instrument for scoring disease severity and adding additional points for palmoplantar involvement might be valuable.
Keyphrases
  • end stage renal disease
  • chronic kidney disease
  • ejection fraction
  • newly diagnosed
  • young adults
  • prognostic factors
  • peritoneal dialysis
  • intellectual disability
  • copy number
  • patient reported