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

Orphanet J Rare Dis. 2022 Jul 15;17(1):269. doi: 10.1186/s13023-022-02430-6.


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.

Keywords: Biological therapy; Gene therapy; Ichthyosis; Management; Replacement therapy; Small molecule therapy.

Publication types

  • Review

MeSH terms

  • Humans
  • Ichthyosis* / genetics
  • Ichthyosis* / therapy
  • Netherton Syndrome*
  • Skin
  • Skin Neoplasms