Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole

Acta Derm Venereol. 2009;89(1):12-20. doi: 10.2340/00015555-0573.

Abstract

Lamellar ichthyosis is a keratinization disorder caused by TGM1, Ichthyin and several other gene mutations. A new treatment option is liarozole, which blocks the cytochrome P450 (CYP26)-mediated catabolism of endogenous all-trans retinoic acid. This study focuses on the expression of retinoid-related genes in ichthyotic epidermis before and after treatment with oral liarozole. We first compared the mRNA expression of cellular retinoic acid binding protein II (CRABPII), keratin (KRT) 2 and 4, CYP26A1 and B1, and two markers of inflammation (interleukin-1alpha and tumours necrosis factor (TNF)-alpha) in shave biopsies from 11 genetically defined, untreated patients and 12 age- and sex-matched healthy controls, finding no overt differences between the groups, besides elevated CRABPII expression. We then studied the biomarkers before and after 4 weeks of treatment with liarozole (75 or 150 mg/day), which produced a better therapeutic response in patients with Ichthyin (n=3) than in those with TGM1 (n=6) mutations. A significant decrease in the mRNA expression of KRT2 and TNF-alpha, and trends toward increased expression of KRT4 and CYP26A1 were observed in liarozole-treated patients, consistent with an increased retinoid stimulation of epidermis. However, there were no dose-related responses and the results of the immunostaining did not always parallel the mRNA findings. The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis by mildly affecting the expression of retinoid- regulated genes in epidermis.

Publication types

  • Multicenter Study
  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Administration, Oral
  • Adolescent
  • Adult
  • Aged
  • Biomarkers / analysis
  • Dermatologic Agents / therapeutic use*
  • Double-Blind Method
  • Female
  • Humans
  • Ichthyosis, Lamellar / drug therapy*
  • Ichthyosis, Lamellar / genetics*
  • Imidazoles / administration & dosage*
  • Interleukin-1alpha / analysis
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • RNA, Messenger / analysis
  • Receptors, Retinoic Acid / genetics*
  • Skin / chemistry
  • Tretinoin / metabolism
  • Tumor Necrosis Factor-alpha / analysis

Substances

  • Biomarkers
  • Dermatologic Agents
  • Imidazoles
  • Interleukin-1alpha
  • RNA, Messenger
  • Receptors, Retinoic Acid
  • Tumor Necrosis Factor-alpha
  • retinoic acid binding protein II, cellular
  • Tretinoin
  • liarozole