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
Journal of Korean Medical Science
; : 1307-1318, 2016.
Article
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| WPRIM
| ID: wpr-143608
Biblioteca responsable:
WPRO
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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Índice:
WPRIM
Asunto principal:
Piel
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Calicreínas
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Citocinas
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Hibridación Fluorescente in Situ
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Polimorfismo de Nucleótido Simple
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Cromosomas Humanos X
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Pueblo Asiatico
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Proteínas Inhibidoras de Proteinasas Secretoras
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Hibridación Genómica Comparativa
/
República de Corea
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
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Adult
/
Child
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Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Journal of Korean Medical Science
Año:
2016
Tipo del documento:
Article