[A case of neonatal-onset generalized pustular psoriasis caused by IL36RN gene variation]

Zhonghua Er Ke Za Zhi. 2022 Aug 2;60(8):829-831. doi: 10.3760/cma.j.cn112140-20220217-00128.

[Article in Chinese]

Authors

L Zheng¹, S Y Jiang¹, L Yang², Y Cao¹, C Chen¹, J Wang¹

Affiliations

¹ Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
² Department of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.

PMID: 35922198
DOI: 10.3760/cma.j.cn112140-20220217-00128

Abstract

患儿女，11日龄，因“发现全身皮疹11 d，气促1 d”2017年11月就诊于复旦大学附属儿科医院。患儿出生当天全身散在红斑伴脓疱疹，病程中发现血性胸腔积液。基因检测提示存在IL36RN基因c.115+6T>C及c.140A>G杂合变异，诊断患儿为该基因导致的脓疱型银屑病14型。.

Publication types

Case Reports

MeSH terms

Exanthema*
Humans
Infant, Newborn
Interleukins / genetics
Mutation
Psoriasis* / genetics

Substances

IL36RN protein, human
Interleukins