由于NIPAL4基因纯合变异导致的常染色体隐性先天性鱼鳞病，对乌司奴单抗有显著反应。
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.
作者信息
Poulton Cathryn, Gration Dylan, Murray Kevin, Baynam Gareth, Halbert Anne
机构信息
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
Department of Paediatrics and Neonatology, Fiona Stanley Hospital, Perth, Australia.
出版信息
Pediatr Dermatol. 2019 Nov;36(6):1002-1003. doi: 10.1111/pde.13995. Epub 2019 Sep 18.
PMID:31532840
Abstract
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.
摘要
常染色体隐性先天性鱼鳞病是一组在遗传和表型上具有异质性的鳞屑性皮肤疾病。我们描述了一名由NIPAL4基因纯合变异导致的先天性鱼鳞病患者，其皮肤表型和相关关节病在使用乌司奴单抗后有明显改善。
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