期刊
DERMATOLOGY
卷 226, 期 1, 页码 28-31出版社
KARGER
DOI: 10.1159/000346572
关键词
Acrodermatitis continua of Hallopeau; Generalized pustular psoriasis; IL36RN gene; Mutations
类别
资金
- Ministry of Education, Culture, Sports, Science and Technology, Japan
- American University of Beirut, Lebanon [DER.MK.01]
Acrodermatitis continua of Hallopeau (ACH) is a rare, chronic, sterile, pustular eruption that predominantly affects the fingertips with nail involvement. While some consider ACH a distinct entity, many believe it to be a variant of pustular psoriasis, especially as cases of ACH progressing to generalized pustular psoriasis (GPP) have been reported. Recently, recessively inherited mutations in the IL36RN gene, which encodes interleukin-36 receptor antagonist (IL-36Ra), have been demonstrated to be the cause of familial GPP, a condition termed DITRA (deficiency of IL-36Ra). Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP. Copyright (C) 2013 S. Karger AG, Basel
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据