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伊拉克首例鱼鳞病-早产综合征病例报告:附文献综述

First documented case of ichthyosis prematurity syndrome in Iraq: A case report with literature review.

作者信息

Al-Obaidi Ahmed Dheyaa, Al-Obiade Reem, Al-Badri Sajjad Ghanim, Al-Fatlawi Nabeel, Al-Obaidi Mustafa Najah, Hashim Hashim Talib, Al-Zeena Asma, Al-Musawi Mustafa, Sarah Dima, Al-Awad Abdullah

机构信息

Department of Internal Medicine, University of Baghdad, College of Medicine, Baghdad, Iraq.

Research Department, University of Warith Al-Anbiyaa, College of Medicine, Karbala, Iraq.

出版信息

Radiol Case Rep. 2024 Sep 12;19(12):5770-5774. doi: 10.1016/j.radcr.2024.08.076. eCollection 2024 Dec.

Abstract

Ichthyosis Prematurity Syndrome (IPS) is a rare autosomal recessive disorder characterized by premature birth, respiratory distress, and distinctive skin abnormalities. Infants with IPS typically present between 30 and 34 weeks of gestation with a thick, caseous, desquamating epidermis resembling vernix caseosa. We report a case of a female neonate born at 30 weeks, weighing 1400 grams, with severe respiratory distress and characteristic skin abnormalities. Immediate intervention, including mechanical ventilation and surfactant therapy, was essential. Histopathological examination revealed hyperkeratosis, parakeratosis, and a thickened stratum corneum, with genetic testing confirming FATP4 gene mutations. Comprehensive care by a multidisciplinary team, including CPAP, emollients, and enteral feeding, led to significant improvement, and the neonate was discharged after 4 weeks. This is the first reported case of IPS in Iraq. This case highlights the importance of early recognition, genetic testing, and a coordinated care approach for managing IPS, emphasizing the need for awareness of its characteristic features to improve patient outcomes.

摘要

鱼鳞病早产综合征(IPS)是一种罕见的常染色体隐性疾病,其特征为早产、呼吸窘迫和独特的皮肤异常。患有IPS的婴儿通常在妊娠30至34周时出生,其表皮增厚、呈干酪样、有脱屑,类似胎脂。我们报告了一例30周出生、体重1400克的女新生儿,患有严重呼吸窘迫和特征性皮肤异常。立即进行包括机械通气和表面活性剂治疗在内的干预至关重要。组织病理学检查显示角化过度、不全角化和角质层增厚,基因检测证实存在FATP4基因突变。由多学科团队提供的综合护理,包括持续气道正压通气(CPAP)、润肤剂和肠内喂养,使病情有了显著改善,该新生儿在4周后出院。这是伊拉克首次报告的IPS病例。该病例强调了早期识别、基因检测以及采用协调护理方法来管理IPS的重要性,突出了了解其特征以改善患者预后的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/085c/11416458/4517c1603e50/gr1.jpg

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