Li Xiuyan, Chen Mingfei, Fu Xi'an, Zhang Qilin, Wang Zhenzhen, Yu Gongqi, Yu Yongxiang, Qin Peipei, Wu Weizhi, Pan Futang, Liu Hong, Zhang Furen
Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China; School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan, Shandong, China.
Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong, China.
J Dermatol Sci. 2014 Nov;76(2):132-8. doi: 10.1016/j.jdermsci.2014.08.007. Epub 2014 Aug 26.
Generalized pustular psoriasis (GPP) is a rare type of psoriasis with potentially life-threatening implications. Mutations in IL36RN gene have been suggested to be causative or predisposing factors for GPP.
To evaluate the genetic heterogeneity of GPP, PV and GPP alone, GPP with PV.
We performed a sanger sequencing identify IL36RN mutations in 62 Chinese Han patients with sporadic GPP, including 17 GPP without psoriasis vulgaris (PV) (GPP alone) cases vs. 45 GPP with preceding, later or accompanied by PV (GPP with PV) cases; 16 patients with pediatric-onset GPP (PGPP) vs. 46 adult-onset GPP (AGPP). We included 96 healthy controls and 174 sporadic patients with PV.
We found 2 new variants and 4 known IL36RN variants in 29 GPP patients, 18 individuals carried recessive (homozygous/compound heterozygous) alleles and 11 cases harbored a single heterozygous change. Twelve PV patients and six controls harbored a single heterozygous for three out of the six variants. Significant differences were observed between GPP and PV groups, GPP alone and GPP with PV groups when compared frequencies of IL36RN variants, but we did not found association between PGPP and AGPP groups.
Our study provided more evidence that GPP and PV are distinct subtypes of psoriasis caused by different pathogenesis, and GPP alone could be regarded as an especial entities of GPP which is different from GPP with PV on the etiology.
泛发性脓疱型银屑病（GPP）是一种罕见的银屑病类型，具有潜在的危及生命的影响。IL36RN基因突变被认为是GPP的致病或易感因素。
评估GPP、单纯性GPP、合并寻常型银屑病（PV）的GPP的基因异质性。
我们对62例中国汉族散发性GPP患者进行了桑格测序以鉴定IL36RN突变，其中包括17例无寻常型银屑病（PV）的GPP（单纯性GPP）病例与45例先前、之后或伴有PV的GPP（合并PV的GPP）病例；16例儿童期起病的GPP（PGPP）患者与46例成人期起病的GPP（AGPP）患者。我们纳入了96名健康对照和174例散发性PV患者。
我们在29例GPP患者中发现了2个新变异和4个已知的IL36RN变异，18例个体携带隐性（纯合子/复合杂合子）等位基因，11例病例存在单个杂合性改变。12例PV患者和6例对照在6个变异中的3个存在单个杂合性。比较IL36RN变异频率时，GPP组与PV组、单纯性GPP组与合并PV的GPP组之间观察到显著差异，但我们未发现PGPP组与AGPP组之间存在关联。
我们的研究提供了更多证据表明GPP和PV是由不同发病机制引起的银屑病不同亚型，单纯性GPP可被视为GPP的一个特殊实体，其在病因学上与合并PV的GPP不同。
