Generalized pusular psoriasis triggered by amoxicillin in monozygotic twins with compound heterozygous IL36RN mutations : Comment on the article by Navarini et al
Generalized pusular psoriasis triggered by amoxicillin in monozygotic twins with compound heterozygous IL36RN mutations : Comment on the article by Navarini et al
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具有复合杂合 IL36RN 突变的同卵双胞胎中阿莫西林引发的全身性脓疱型银屑病：对 Navarini 等人的文章的评论
DOI：
10.1038/jid.2013.354
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发表时间：
2014
影响因子：
6.5
通讯作者：
Akiyama M
中科院分区：
文献类型：
--
作者：
Sugiura K;Shoda Y;Akiyama M
我们怀着极大的兴趣阅读了Navarini等人最近关于急性全身性暴露性脓疱病（AGEP）中IL 36 RN突变的报道。（2013年）。他们分析了96例AGEP患者的IL 36 RN突变，发现只有一个纯合突变（p.Leu27Pro）和三个杂合突变。P.Leu27Pro是一种创始突变，在非洲人群中同源地引起全身性脓疱性银屑病（GPP），Navarini等人描述了AGEP患者。Leu 27 Pro是一名非洲妇女（Marrakchi et al.，2011; Navarini等人，2013年）。既往有由不确定的抗生素引发的药物引起的未知类型皮肤反应史。她表现出脓疱覆盖了85%的体表，包括口腔，阿莫西林引起的发热为39.41 ℃，阿莫西林斑贴试验呈阳性。未描述患者的治疗。在18个月的随访期间没有观察到复发。在最近的一份报告中，我们分析了11例不伴有寻常型银屑病（PV）的GPP患者（单独的GPP; Sugiura等人，2013年）。在11名单独使用GPP的患者中，有一名IL 36 RN中存在p.Arg10X和p.Arg10ArgfsX1复合杂合突变的单卵双胞胎，其脓疱和高热主要由阿莫西林引发。患者为6岁的日本男性同卵双胞胎。在2岁时，他们在服用阿莫西林后全身出现红斑伴脓疱，发热超过381 ℃。在其中一对双胞胎中，血液检查显示白色血细胞计数为24，300 μ L/ml，C反应蛋白浓度为1.17 mg/ml。细菌培养
We read with great interest the recent report regarding IL36RN mutations in acute generalized exanthematous pustulosis (AGEP) by Navarini et al.(2013). They analyzed IL36RN mutations in 96 cases with AGEP and found only one homozygous mutation (p. Leu27Pro) and three heterozygous mutations. p. Leu27Pro is a founder mutation causing generalized pustular psoriasis (GPP) homozygously in African populations, and the AGEP patient described by Navarini et al.(2013) with the homozygous mutation p. Leu27Pro is an African woman (Marrakchi et al., 2011; Navarini et al., 2013). She had a previous history of drug-induced type-unknown skin reaction triggered by uncertain antibiotics. She showed pustules covering 85% of her body surface, including the mouth, and a 39.41 C fever triggered by amoxicillin.A positive patch test to amoxicillin was noted. Treatment of the patient was not described. No recurrence was observed during the 18-month follow-up. In a recent report, we analyzed 11 patients with GPP not accompanied by psoriasis vulgaris (PV)(GPP-alone; Sugiura et al., 2013). Among the 11 GPP-alone patients, there was a monozygotic twin with the compound heterozygous mutations p. Arg10X and p. Arg10ArgfsX1 in IL36RN whose pustules and high fever had primarily been triggered by amoxicillin. The patients were 6-year-old Japanese male identical twins. At the age of 2 years, they had erythema with pustules on the whole body and fever over 381C after amoxicillin intake. In one of the twins, blood examination revealed a white blood cell count of 24,300 μlÀ 1 and a C-reactive protein concentration of 1.17 mgdlÀ 1. Bacterial culture for