Pathogenesis-based therapies in ichthyoses

Joey E. Lai-Cheong, Peter M. Elias*, Amy S. Paller

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations


During the past 20 years, tremendous progress has been made in our understanding of the molecular basis of many genetic skin conditions. The translation of these laboratory findings into effective therapies for affected individuals has been slow, however, in large part due to the risk of carcinogenesis from random viral genomic integration and the lack of efficacy of topically applied genetic material and most proteins. As intervention at the gene level still appears remote for most genetic disorders, increased knowledge about the cellular and biochemical pathogenesis of disease allows specific targeting of pathways with existing and/or novel drugs and molecules. In contrast to the requirement for personalization of most gene-based approaches, pathogenesis-based therapy is pathway specific, and in theory, it should have broader applicability. In this chapter, we provide an overview of the pathoetiology of the various types of ichthyoses and demonstrate how a pathogenesis-based approach can potentially lead to innovative treatments for these conditions. Notably, this strategy has been successfully validated for the treatment of the rare X-linked dominant condition, CHILD syndrome, in which topical applications of cholesterol and lovastatin together to affected skin resulted in marked improvement of the skin phenotype.

Original languageEnglish (US)
Pages (from-to)46-54
Number of pages9
JournalDermatologic Therapy
Issue number1
StatePublished - Jan 2013


  • ceramides
  • cholesterol
  • fatty acids
  • ichthyosis
  • lanosterol
  • pathogenesis

ASJC Scopus subject areas

  • Dermatology


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