治疗新生儿先天性鱼鳞病的病例

O. Obolonskyi, O. Kapustina, O. Obolonska, N. Kuznetsova
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引用次数: 0

摘要

先天性鱼鳞病(CI)是一组导致角化缺陷的罕见遗传性疾病。这类疾病包括遗传性鱼鳞病和遗传性鱼鳞病综合征。乌克兰尚无官方统计数据。最常见的临床表现是非大疱性角化过度,其特征是角化过度的厚鳞屑、皮肤增厚、严重的皮肤干燥和红斑。在更严重的情况下,会出现外翻、外翻。CI 患者的皮肤渗透性增加,导致水分和热量流失增加,体温调节困难,弹性降低,从而限制了活动能力。症状的严重程度各不相同,但出生时的严重表现并不总是预示着日后更严重的病程。由于需要进行核型分析,而核型分析的费用相当昂贵,因此给明确诊断带来了挑战。目前可用的治疗方法包括持续保湿、减少经表皮失水、使用局部角质溶解剂和润肤剂控制过度角化层的厚度(将其减少到最低限度),以及在严重病例中使用全身性维甲酸。文章介绍了一个成功局部治疗 CI 的临床病例,疗效显著,无需使用全身性维甲酸类药物。材料的发表已获得 CI "刚果(金)地区家庭保健医疗中心 "生物伦理委员会的批准。所有临床数据、检查结果和照片均在事先征得家长书面同意的情况下提供。结论先天性鱼鳞病需要仔细监测。最初的临床表现不能作为病程严重程度的标志。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A CASE OF TREATMENT OF CONGENITAL ICHTHYOSIS IN A NEWBORN CHILD
Congenital ichthyoses (CI) are a group of rare inherited disorders that cause keratinization defects. This group includes hereditary ichthyosis and hereditary syndromes with ichthyosiform lesions. Offi cial statistics are not yet available in Ukraine. The most common clinical manifestation is nonbullous hyperkeratosis characterized by thick hyperkeratotic scales, skin thickening, severe skin dryness and erythema. In more severe forms – ectropion, eclabion. Skin permeability is increased in CI patients, resulting in increased fl uid and calorie loss, diffi culty in thermoregulation, and reduced elasticity, which limits mobility. Symptoms can vary in severity, but severe manifestations at birth are not always indicative of a more severe course later in life. Challenges in defi nitive diagnosis are due to the need for karyotyping, which is quite expensive. Currently available treatment modalities include continuous moisturization, reduction of transepidermal water loss, control of hyperkeratotic layer thickness (reducing it to a minimum) with local keratolytics, emollients, and systemic retinoids in severe cases. The article presents a clinical case of successful local treatment of CI with a pronounced eff ect without the use of systemic retinoids. The publication of the materials has been approved by the Bioethics Commission of the CI «Regional Medical Center for Family Health» DRC». All anamnestic data, examination results and photographs are provided with prior written consent of the parents. Conclusion. Congenital ichthyoses require careful monitoring. The initial clinical manifestations can not be a marker for the severity of the disease course.
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