New developments in the molecular treatment of ichthyosis: review of the literature

M D W Joosten, J M K Clabbers, N Jonca, J Mazereeuw-Hautier, A H Gostyński*

*Corresponding author for this work

Research output: Contribution to journal(Systematic) Review article peer-review

Abstract

Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made. This knowledge, combined with constant development of pathogenesis-based therapies, such as protein replacement therapy and gene therapy, are rather promising for patients with inherited skin diseases. Several ongoing trials are investigating the potency of these new approaches and various studies have already been published. Furthermore, a lot of case series report that biological therapeutics are effective treatment options, mainly for Netherton syndrome and autosomal recessive congenital ichthyosis. It is expected that some of these new therapies will prove their efficacy and will be incorporated in the treatment of ichthyosis.

Original languageEnglish
Article number269
Number of pages15
JournalOrphanet Journal of Rare Diseases
Volume17
Issue number1
DOIs
Publication statusPublished - 15 Jul 2022

Keywords

  • ALDEHYDE DEHYDROGENASE-DEFICIENCY
  • Biological therapy
  • CHILD SYNDROME
  • CORRECTIVE GENE-TRANSFER
  • ENZYME-REPLACEMENT THERAPY
  • Gene therapy
  • Ichthyosis
  • MULTIPLE ALLERGIES
  • Management
  • NETHERTON SYNDROME
  • PITYRIASIS-RUBRA-PILARIS
  • RECESSIVE CONGENITAL ICHTHYOSIS
  • Replacement therapy
  • SEVERE DERMATITIS
  • SKIN
  • Small molecule therapy

Cite this