X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments

Authors

  • T. Hoppe,

    1. Department of Medical Sciences, Dermatology and Venereology, Uppsala University, SE-75185 Uppsala, Sweden
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  • M.C.G. Winge,

    1. Department of Medicine Solna, Dermatology and Venereology Unit, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
    2. Department of Molecular Medicine & Surgery and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
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  • M. Bradley,

    1. Department of Medicine Solna, Dermatology and Venereology Unit, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
    2. Department of Molecular Medicine & Surgery and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
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  • M. Nordenskjöld,

    1. Department of Molecular Medicine & Surgery and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
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  • A. Vahlquist,

    1. Department of Medical Sciences, Dermatology and Venereology, Uppsala University, SE-75185 Uppsala, Sweden
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  • B. Berne,

    1. Department of Medical Sciences, Dermatology and Venereology, Uppsala University, SE-75185 Uppsala, Sweden
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  • H. Törmä

    1. Department of Medical Sciences, Dermatology and Venereology, Uppsala University, SE-75185 Uppsala, Sweden
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  • Funding sources
    This study was supported by The Edvard Welander and Finsen Foundation and Uppsala County Council.

  • Conflicts of interest
    None declared.

Torborg Hoppe.
E-mail: torborg.hoppe@medsci.uu.se

Summary

Background  X-linked recessive ichthyosis (XLRI) is due to deletions or inactivating mutations in the steroid sulfatase (STS) gene. This results in an accumulation of cholesterol sulphate affecting the packing of intercorneocyte lipids. XLRI is characterized by dry, scaly skin and increased skin barrier permeability; patients are often dependent on daily use of moisturizers.

Objectives  To examine the biophysical and molecular changes in the skin of patients with XLRI compared with healthy volunteers, and to analyse the effects of moisturizers on the patients’ barrier function.

Methods  Patients with XLRI (= 14) and healthy controls (= 14) were included in the study. Skin dryness score, transepidermal water loss (TEWL) and skin surface pH were monitored at baseline, and punch biopsies were obtained for mRNA expression profiles determined by oligonucleotide arrays. Measurements were repeated in the patients with XLRI after a 4-week treatment with three different moisturizers on the volar forearms.

Results  Patients with XLRI showed, compared with healthy controls, increased dryness and TEWL, equal skin pH and altered expression of 27 genes. There were no signs of activation of inflammation or repair pathways. Five selected genes were significantly altered also on quantitative polymerase chain reaction analysis. Treatment with the moisturizers showed similar effects: they improved skin dryness but had no effect on TEWL, pH or expression of selected genes.

Conclusions  Despite a dysfunctional skin barrier, the limited number of genes altered in XLRI skin suggests that no inflammatory or repair mechanisms are triggered. Treatment with moisturizers does not have any major impact on the skin barrier properties of patients with XLRI.

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