Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab

被引：22

作者：

Poulton, Cathryn ^{[1
,2
]}

Gration, Dylan ^{[1
,3
]}

Murray, Kevin ^{[4
]}

Baynam, Gareth ^{[1
,3
,5
]}

Halbert, Anne ^{[6
]}

机构：

[1] King Edward Mem Hosp, Genet Serv Western Australia, Perth, WA, Australia

[2] Fiona Stanley Hosp, Dept Paediat & Neonatol, Perth, WA, Australia

[3] King Edward Mem Hosp, Western Australian Register Dev Anomalies, Perth, WA, Australia

[4] Perth Childrens Hosp, Dept Rheumatol, Perth, WA, Australia

[5] King Edward Mem Hosp, Undiagnosed Dis Program, Perth, WA, Australia

[6] Perth Childrens Hosp, Dept Dermatol, Perth, WA, Australia

来源：

PEDIATRIC DERMATOLOGY | 2019年 / 36卷 / 06期

关键词：

arthropathy; erythroderma; ichthyosis; therapy-systemic; MUTATIONS;

D O I：

10.1111/pde.13995

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab.

引用

页码：1002 / 1003

页数：2

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