{"title":"Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review.","authors":"Emad Bahashwan, Jaber Alfaifi, Sahar Elmaghawri Mohamed Moursi, Youssef Elbayoumi Soliman","doi":"10.1155/2024/8729318","DOIUrl":null,"url":null,"abstract":"<p><p>Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. A moderate number of cases and a high mortality rate have been recorded. In this case report, a pregnant lady gave birth to a 33-week-old premature foetus with characteristic symptoms of HI. After admitting him to the NICU, a multidisciplinary treatment approach was conducted with paediatric dermatologists, ophthalmologists, urologists, and dieticians. The prognosis is positive, with desquamation of the hyperkeratotic plate revealing an erythematous and shiny skin. A short literature review on HI characteristics, diagnostic aids, and management has also been added.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":"2024 ","pages":"8729318"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798836/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Dermatological Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2024/8729318","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. A moderate number of cases and a high mortality rate have been recorded. In this case report, a pregnant lady gave birth to a 33-week-old premature foetus with characteristic symptoms of HI. After admitting him to the NICU, a multidisciplinary treatment approach was conducted with paediatric dermatologists, ophthalmologists, urologists, and dieticians. The prognosis is positive, with desquamation of the hyperkeratotic plate revealing an erythematous and shiny skin. A short literature review on HI characteristics, diagnostic aids, and management has also been added.
Harlequin 鱼鳞病（HI）是一种遗传性表皮疾病，是由于负责脂质运输的 ABCA12 基因发生突变而引起的。该病的病例数量不多，死亡率较高。在本病例报告中，一名孕妇产下了一个 33 周大的早产儿，并伴有 HI 的特征性症状。将其送入新生儿重症监护室后，儿科皮肤科医生、眼科医生、泌尿科医生和营养师对其进行了多学科治疗。预后良好，角化过度板块脱屑，皮肤红斑发亮。此外，还补充了有关 HI 特征、诊断辅助工具和治疗方法的简短文献综述。
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