Stevens-Johnson syndrome and toxic epidermal necrolysis: An update on pharmacogenetics studies in drug-induced severe skin reaction

Sara Rufini, Cinzia Ciccacci, Cristina Politi, Emiliano Giardina, Giuseppe Novelli, Paola Borgiani

Research output: Contribution to journalArticlepeer-review

Abstract

Stevens-Johnson syndrome and toxic epidermal necrolysis are severe, life-threatening drug reactions involving skin and membranes mucous, which are associated with significant morbidity and mortality and triggered, especially by drug exposure. Different studies have demonstrated that drug response is a multifactorial character and that the interindividual variability in this response depends on both environmental and genetic factors. The last ones have a relevant significance. In fact, the identification of new specific genetic markers involved in the response to drugs, will be of great utility to establish a more personalized therapeutic approach and to prevent the appearance of these adverse reactions. In this review, we summarize recent progresses in the Pharmacogenetics studies related to Stevens-Johnson syndrome/toxic epidermal necrolysis reporting the major genetic factors identified in the last years as associated with the disease and highlighting the use of some of these genomic variants in the clinical practice.

Original languageEnglish
Pages (from-to)1989-2002
Number of pages14
JournalPharmacogenomics
Volume16
Issue number17
DOIs
Publication statusPublished - Nov 1 2015

Keywords

  • allopurinol
  • carbamazepine
  • genomic biomarkers
  • nevirapine
  • pharmacogenetics
  • polymorphisms
  • SJS/TEN

ASJC Scopus subject areas

  • Pharmacology
  • Genetics
  • Molecular Medicine

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