Clinical Diagnosis and Management Challenges of Harlequin Ichthyosis in a Preterm Neonate: A Case Report From Uganda.

Q3 Medicine
Case Reports in Dermatological Medicine Pub Date : 2025-01-21 eCollection Date: 2025-01-01 DOI:10.1155/crdm/7982066
Munanura Turyasiima, Djamila Magan Mohamed, Hamdi Mohamed Yusuf, Gloria Nakalema, Balbina Gillian Akot, Joan Kyoshabire, Shabirih Mutagamba, Grace Gladys Kimono, Jimmy Emmy Duca, Ibrahimu Makongwa
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Abstract

Introduction: Harlequin ichthyosis is a rare autosomal recessive genetic disorder resulting from mutations in the ABCA12 gene. It is marked by distinctive skin abnormalities, including armor-like thickened scales separated by deep fissures. This condition is infrequently reported in the African population. Clinical Findings: This report presents the case of a preterm neonate, born at 28 weeks of gestation, exhibiting dysmorphic features and severe generalized hyperkeratosis. The defining skin abnormalities included deep fissures across the head and trunk, bilateral eyelid ectropion, eclabium, underdeveloped auricles, and limbs enveloped in thick hyperkeratotic plaques with constricting bands and hypoplastic digits. Diagnosis, Interventions, and Outcomes: The diagnosis of harlequin ichthyosis was established based on the characteristic clinical presentation. Supportive care included routine neonatal management and conservative treatment for prematurity-related respiratory distress syndrome. However, specific therapies, such as systemic retinoids, could not be administered due to their unavailability in the clinical setting. Unfortunately, the neonate passed away on the fifth day of life due to respiratory complications. Conclusion: Harlequin ichthyosis remains associated with a high mortality rate, especially in resource-limited settings. Contributing factors include inadequate prenatal diagnostic services, restricted access to essential treatments, and insufficient neonatal care infrastructure, all of which exacerbate poor outcomes in developing countries.

早产新生儿小丑鱼鳞病的临床诊断和管理挑战:来自乌干达的一例报告。
简介:丑角鱼鳞病是一种罕见的常染色体隐性遗传病,由ABCA12基因突变引起。它的特征是明显的皮肤异常,包括由深裂缝隔开的盔甲状增厚的鳞片。这种情况在非洲人群中很少报道。临床表现:本报告报告了一例早产新生儿,在妊娠28周出生,表现出畸形特征和严重的广泛性角化过度。定义的皮肤异常包括头部和躯干的深裂,双侧眼睑外翻,外唇,耳廓发育不全,四肢被厚厚的角化过度斑块包围,伴有缩窄带和手指发育不全。诊断,干预措施和结果:诊断小丑鱼鳞病是建立在临床表现的基础上。支持性护理包括常规新生儿管理和早产儿相关呼吸窘迫综合征的保守治疗。然而,特异性治疗,如系统性类维生素a,由于在临床环境中不可获得,不能给予。不幸的是,由于呼吸系统并发症,这名新生儿在出生的第五天就去世了。结论:丑角鱼鳞病仍然与高死亡率相关,特别是在资源有限的环境中。造成这种情况的因素包括产前诊断服务不足、获得基本治疗的机会有限以及新生儿护理基础设施不足,所有这些都加剧了发展中国家的不良后果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
24
审稿时长
15 weeks
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