Skin barrier function is not impaired and kallikrein 7 gene polymorphism is frequently observed in korean x-linked ichthyosis patients diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization

Noo Ri Lee, Na Young Yoon, Minyoung Jung, J. Y. Kim, Seong Jun Seo, Hye Young Wang, Hyeyoung Lee, Young Bae Sohn, Eung Ho Choi

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50%) than in controls (0%), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.

Original languageEnglish
Pages (from-to)1307-1318
Number of pages12
JournalJournal of Korean medical science
Volume31
Issue number8
DOIs
Publication statusPublished - 2016 Jan 1

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X-Linked Ichthyosis
Ichthyosis
Kallikreins
Comparative Genomic Hybridization
Fluorescence In Situ Hybridization
Skin
Genes
Cornea
Mutation
Cytokines
Epidermis

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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title = "Skin barrier function is not impaired and kallikrein 7 gene polymorphism is frequently observed in korean x-linked ichthyosis patients diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization",
abstract = "X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50{\%}) than in controls (0{\%}), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.",
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Skin barrier function is not impaired and kallikrein 7 gene polymorphism is frequently observed in korean x-linked ichthyosis patients diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization. / Lee, Noo Ri; Yoon, Na Young; Jung, Minyoung; Kim, J. Y.; Seo, Seong Jun; Wang, Hye Young; Lee, Hyeyoung; Sohn, Young Bae; Choi, Eung Ho.

In: Journal of Korean medical science, Vol. 31, No. 8, 01.01.2016, p. 1307-1318.

Research output: Contribution to journalArticle

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AU - Yoon, Na Young

AU - Jung, Minyoung

AU - Kim, J. Y.

AU - Seo, Seong Jun

AU - Wang, Hye Young

AU - Lee, Hyeyoung

AU - Sohn, Young Bae

AU - Choi, Eung Ho

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