Acrodermatitis Continua of Hallopeau Is a Clinical Phenotype of DITRA: Evidence that It Is a Variant of Pustular Psoriasis

被引:39
作者
Abbas, Ossama [1 ]
Itani, Salam [1 ]
Ghosn, Samer [1 ]
Kibbi, Abdul Ghani [1 ]
Fidawi, Georges [1 ]
Farooq, Muhammad [3 ]
Shimomura, Yutaka [3 ]
Kurban, Mazen [1 ,2 ,4 ]
机构
[1] Amer Univ Beirut, Med Ctr, Dept Dermatol, Beirut 11072020, Lebanon
[2] Amer Univ Beirut, Med Ctr, Dept Biochem & Mol Genet, Beirut 11072020, Lebanon
[3] Niigata Univ, Grad Sch Med & Dent Sci, Lab Genet Skin Dis, Niigata, Japan
[4] Columbia Univ, Dept Dermatol, Med Ctr, New York, NY 10027 USA
关键词
Acrodermatitis continua of Hallopeau; Generalized pustular psoriasis; IL36RN gene; Mutations; ANTAGONIST ANAKINRA; MUTATIONS;
D O I
10.1159/000346572
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
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
引用
收藏
页码:28 / 31
页数:4
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