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KMID : 0984920130150020101
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Journal of Skin Barrier Research
2013 Volume.15 No. 2 p.101 ~ p.101
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Skin Barrier Properties, Cytokines and Gene Expression in Korean X-linked Recessive Patients Diagnosed with FISH Analysis
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Lee Noo-Ri
Yoon Na-Young
Jung Min-Young
Kim Ji-Yun
Seo Seong-Jun
Wang Hye-Young
Lee Hye-Young
Sohn Young-Bae
Choi Eung-Ho
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Abstract
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X-linked recessive ichthyosis (RXLI) is an inherited ichthyosis characterized by generalized dryness and scales, and is caused by deficiency of steroid sulfatase (STS) which results in an accumulation of cholesterol sulfate in the intercorneocyte lipids. The STS gene is located on the distal tip of the short arm of X chromosome, locus Xp22.3. RXLI must be differentiated from ichthyosis vulgaris (IV) showing very similar clinical manifestations. We evaluated clinical manifestations and skin barrier function of 16 Korean male RXLI patients, who were diagnosed by fluorescence in situ hybridization (FISH) and array CGH analysis. We evaluated their past histories and family histories, skin barrier properties, cytokine expression levels in the stratum corneum and gene mutations. The clinical manifestations showed quite different from the already reported features, as most of the patients showed uninvolved flexural skin and 10 patients (62.5%) had past history or family history of atopic diseases. Four patients showed elevated serum IgE level. Histopathology of ichthyosis lesions showed normal or slightly increased granular layers in all patients. In the functional study on skin barrier, all patients showed significantly lower stratum corneum hydration compared to normal controls, but no difference in basal transepidermal water loss (TEWL). Skin surface pH of measured from lesional skin or the patients did not show any significant difference compared to the uninvolved skin. We measured various cytokine expression levels including Th1, Th2, Treg, and proinflammatory cytokines in the stratum corneum taken from lesional skin and non-lesional of the patients to compare with normal control group. As results, interferon-γ, interleukin-4 and 5 showed significantly lower level in the lesional skin of the patients compared to control group. By evaluating for gene mutations in filaggrin, kallikrein 7 and SPINK 5 genes, surprisingly, 12 patients (75%) showed mutations in kallikrein 7 gene. We believe that this is the first report on RXLI patients in Korea diagnosed by FISH and array analysis as the most definite diagnosis. Here we have found the novel features of RXLI that it usually does not involve the flexures of extremities, frequently correlate with atopic diseases like IV, and does not accompany changes in basal TEWL.
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KEYWORD
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