中文摘要：

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＋6T〉C位点检测到纯合突变,其父亲、母亲、女儿IL-36RN基因c.115＋6T〉C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＋6T〉C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＋6T〉C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。

英文摘要：

Objective To detect IL-36RN mutations in a Chinese Han female patient with impetigo herpetiformis（IH）and generalized pustular psoriasis（GPP）without psoriasis vulgaris（PV）.The gene mutation of her pedigree were also investigated.Methods A 42-year-old female GPP without previous history of PV was studied.She was hospitalized for IH 16 years ago.Her father has suffered from PV for 30 years.Peripheral blood was collected from the 6 members in her pedigree and from 13 healthy controls.Genomic DNA was extracted.PCR was performed to amplify all coding exons and flanking sequences of the IL-36RN gene.The product was directly sequenced.Results A homozygous mutation,c.115＋6T〉C in IL-36RN gene was detected in the IH/GPP patient.A heterozygous mutation,c.115＋6T〉C in IL-36RN gene was detected in her father,mother and daughter.No mutation was detected in the healthy controls and also her brother and husband.Conclusions The homozygous mutation in c.115＋6T〉C of IL-36RN gene may be the common pathogenetic basis of IH and GPP in this patient.To our knowledge,this is the first report on homozygous mutation in c.115＋6T〉C of IL-36RN gene in IH in China.The present study further supports that IH and GPP without PV are identical diseases caused by IL-36RN mutations.