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逆势而行:黎巴嫩一例成功治愈的丑角鱼鳞病病例。

Defying the Odds: A Case of Successfully Treated Harlequin Ichthyosis in Lebanon.

作者信息

Hamam Bassel, Saleh Sarah, Yaacoub Miled, Chebbo Houssein, Jalloul Sarah, Karam Karam, Houmani Rima

机构信息

Department of Radiology University of Balamand Balamand Lebanon.

Faculty of Medicine University of Balamand Balamand Lebanon.

出版信息

Clin Case Rep. 2025 Jan 22;13(1):e70111. doi: 10.1002/ccr3.70111. eCollection 2025 Jan.

DOI:10.1002/ccr3.70111
PMID:39844889
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11752141/
Abstract

Harlequin ichthyosis is a rare skin disorder affecting newborns characterized by a scaly skin, flexed limbs, ectropium, and eclabium. The overall incidence of HI is 1 in 300,000 births, with approximately only 200 cases reported worldwide. Some studies uncovered a TH17 immune skewing in patients with HI, which is also seen in psoriasis. We herein present a case of a newborn found to have harlequin ichthyosis, whom his mother is known to have psoriasis. The baby was treated with topical antibiotics and retinoid creams. The baby then exhibited smoother skin with less scaling and flatter fissures.

摘要

丑角鱼鳞病是一种罕见的影响新生儿的皮肤疾病,其特征为皮肤鳞屑、肢体弯曲、睑外翻和唇外翻。丑角鱼鳞病的总体发病率为每30万例出生中有1例,全球报告的病例约仅200例。一些研究发现丑角鱼鳞病患者存在TH17免疫失衡,银屑病患者中也可见这种情况。我们在此报告一例新生儿被发现患有丑角鱼鳞病,其母亲患有银屑病。该婴儿接受了外用抗生素和维甲酸乳膏治疗。随后婴儿的皮肤变得更光滑,鳞屑减少,裂隙变平。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9260/11752141/8b0336d3eea1/CCR3-13-e70111-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9260/11752141/5e148636998a/CCR3-13-e70111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9260/11752141/8b0336d3eea1/CCR3-13-e70111-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9260/11752141/5e148636998a/CCR3-13-e70111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9260/11752141/8b0336d3eea1/CCR3-13-e70111-g002.jpg

相似文献

1
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本文引用的文献

1
Harlequin ichthyosis: A case report and literature review.丑角样鱼鳞病:一例报告及文献综述。
Clin Case Rep. 2022 Dec 5;10(12):e6709. doi: 10.1002/ccr3.6709. eCollection 2022 Dec.
2
Ichthyosis molecular fingerprinting shows profound T17 skewing and a unique barrier genomic signature.鱼鳞病分子指纹图谱显示出明显的 T17 偏倚和独特的屏障基因组特征。
J Allergy Clin Immunol. 2019 Feb;143(2):604-618. doi: 10.1016/j.jaci.2018.03.021. Epub 2018 May 24.
3
Techniques for toddlers: linear band incision for harlequin ichthyosis with associated compartment syndrome.
幼儿治疗技术:线状带形切口治疗丑角样鱼鳞病合并相关骨筋膜室综合征。
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Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation.丑角样鱼鳞病:新生儿管理及一种新的ABCA12基因突变的鉴定
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Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography.先天性丑角样鱼鳞病的二维、三维和四维超声产前诊断
Clin Exp Obstet Gynecol. 2011;38(3):283-5.
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Harlequin ichthyosis in two siblings.两名兄弟姐妹患丑角样鱼鳞病。
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ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.ABCA12 基因突变与常染色体隐性先天性鱼鳞病:基因型/表型相关性及发病机制概念的综述。
Hum Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326.