无寻常性银屑病的疱疹样脓疱

发布时间：2018-03-29 05:38

本文选题：泛发性脓疱型银屑病　切入点：IL-RN基因　出处：《中国皮肤性病学杂志》2017年10期

【摘要】：目的检测1例无寻常性银屑病的中国汉族女性疱疹样脓疱病、泛发性脓疱型银屑病患者及其家系的IL-36RN基因突变情况。方法 1例42岁无寻常性银屑病病史的泛发性脓疱型银屑病女性患者,16年前曾患疱疹样脓疱病住院治疗。其父亲患寻常性银屑病30年。采集该家系6名成员和13名健康对照的血样,提取基因组DNA,PCR扩增IL-36RN基因的全部外显子编码区及其侧翼序列,并直接测序。结果泛发性脓疱型银屑病患者IL-36RN基因c.115+6TC位点检测到纯合突变,其父亲、母亲、女儿IL-36RN基因c.115+6TC位点均检测到杂合突变,健康对照、其弟弟和丈夫的相同基因位点未检测到突变。结论 IL-36RN基因c.115+6TC位点的纯合突变可能是该例泛发性脓疱型银屑病和疱疹样脓疱病的共同发病基础。本研究为国内首次报告的疱疹样脓疱病患者中检测到IL-36RN基因c.115+6TC位点纯合突变,进一步支持疱疹样脓疱病与不伴寻常性银屑病的泛发性脓疱型银屑病是由IL-36RN基因突变所致的相同疾病。
[Abstract]:Objective to detect herpetic pustular disease in a Chinese Han woman without psoriasis vulgaris. IL-36RN gene mutation in patients with generalized pustular psoriasis and their families methods A 42-year-old female patient with generalized pustular psoriasis without a history of psoriasis vulgaris was hospitalized with herpes pustular pustule 16 years ago. His father suffered from psoriasis vulgaris for 30 years. Blood samples were taken from 6 members of the family and 13 healthy controls. The whole exon coding region and its flanking sequence of IL-36RN gene were amplified by genomic DNA-PCR and sequenced directly. Results homozygous mutation of IL-36RN gene c. 115 6TC was detected in patients with generalized pustular psoriasis. Heterozygosity was detected at the c. 115 6TC locus of daughter IL-36RN gene. Conclusion the homozygous mutation at the 6TC locus of IL-36RN gene c. 115 may be the common pathogenesis of this case of generalized pustular psoriasis and herpes pustular pustule. Homozygous mutations at the c. 115 6TC site of the IL-36RN gene were detected in the first reported herpes pustular disease patients. It is further supported that herpes pustular disease and generalized pustular psoriasis with unusual psoriasis are the same diseases caused by mutation of IL-36RN gene.
【作者单位】：鞍钢集团总医院皮肤科;中国医科大学附属第一医院皮肤科;
【基金】：国家自然科学基金(81470142)
【分类号】：R758.63

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