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.
authors.affiliation: Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea .
authors.forename: Noo Ri
authors.identifier: 0000-0002-0933-4416
authors.initials: NR
authors.lastname: Lee
authors.affiliation: Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea .
authors.forename: Na Young
authors.identifier: 0000-0002-4137-4071
authors.initials: NY
authors.lastname: Yoon
authors.affiliation: Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea .
authors.forename: Minyoung
authors.identifier: 0000-0001-5131-1069
authors.initials: M
authors.lastname: Jung
authors.affiliation: Institute of Atopic Dermatitis, Department of Dermatology, Chung-Ang University Hospital, Seoul, Korea .
authors.forename: Ji-Yun
authors.identifier: 0000-0002-2097-6874
authors.initials: JY
authors.lastname: Kim
authors.affiliation: Institute of Atopic Dermatitis, Department of Dermatology, Chung-Ang University Hospital, Seoul, Korea .
authors.forename: Seong Jun
authors.identifier: 0000-0003-2915-839X
authors.initials: SJ
authors.lastname: Seo
authors.affiliation: M&D, Inc. Wonju Eco Environmental Technology Center, Wonju, Korea .
authors.forename: Hye-Young
authors.identifier: 0000-0001-8404-2248
authors.initials: HY
authors.lastname: Wang
authors.affiliation: Department of Biomedical Laboratory Science, College of Health Sciences, Yonsei University, Wonju, Korea .
authors.forename: Hyeyoung
authors.identifier: 0000-0003-1572-5250
authors.initials: H
authors.lastname: Lee
authors.affiliation: Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea .
authors.forename: Young Bae
authors.identifier: 0000-0002-4664-1941
authors.initials: YB
authors.lastname: Sohn
authors.affiliation: Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea .
authors.forename: Eung Ho
authors.identifier: 0000-0002-0148-5594
authors.initials: EH
authors.lastname: Choi
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D041321:Chromosomes, Human, X; D055028:Comparative Genomic Hybridization; D016207:Cytokines / Q000378:metabolism; D000091344:Filaggrin Proteins; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017404:In Situ Hybridization, Fluorescence; D007381:Intermediate Filament Proteins / Q000235:genetics; D007610:Kallikreins / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics; D056910:Republic of Korea; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D012867:Skin / Q000378:metabolism / Q000473:pathology*; D055815:Young Adult
chemical_list: D016207:Cytokines; C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; C082472:KLK7 protein, human; D007610:Kallikreins
keywords: Kallikrein 7; Korean; Polymorphism; Skin Barrier; X-linked Ichthyosis