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丑角鱼鳞病：一例报告

Harlequin Ichthyosis: A Case Report.

作者信息

Akhtar Shoaib, Anwaar Adeel, Haq Inam Ul, Mukhtar Hazaq, Jamal Sabir, Muzammil Muhammad, Akilimali Aymar

机构信息

Rahbar Medical and Dental College Lahore Pakistan.

Pakistan Kidney and Liver Institute and Research Center Lahore Pakistan Lahore Pakistan.

出版信息

Clin Case Rep. 2025 Jul 14;13(7):e70623. doi: 10.1002/ccr3.70623. eCollection 2025 Jul.

DOI:10.1002/ccr3.70623
PMID:40667495
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12259491/
Abstract

Harlequin ichthyosis (HI) is a genetic disorder caused by ABCA12 gene mutations, presenting with thick, scaly skin and deep fissures. Early recognition, intensive neonatal care, and multidisciplinary management are crucial for improving survival and quality of life. Treatment focuses on skin hydration, infection prevention, and supportive care to manage symptoms effectively.

摘要

丑角鱼鳞病（HI）是一种由ABCA12基因突变引起的遗传性疾病，表现为皮肤增厚、鳞屑和深裂隙。早期识别、强化新生儿护理和多学科管理对于提高生存率和生活质量至关重要。治疗重点在于皮肤保湿、预防感染以及提供支持性护理以有效控制症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bddd/12259491/87522081dc34/CCR3-13-e70623-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bddd/12259491/87522081dc34/CCR3-13-e70623-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bddd/12259491/87522081dc34/CCR3-13-e70623-g001.jpg

相似文献

1
Harlequin Ichthyosis: A Case Report.丑角鱼鳞病：一例报告
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本文引用的文献

1
Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature.丑角鱼鳞病的治疗：近期文献综述
Children (Basel). 2022 Jun 15;9(6):893. doi: 10.3390/children9060893.
2
Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.日本丑角鱼鳞病的流行病学、医学遗传学、诊断与治疗
Pediatr Int. 2015 Aug;57(4):516-22. doi: 10.1111/ped.12638. Epub 2015 Jul 14.
3
Harlequin ichthyosis: a case report of prolonged survival.丑角样鱼鳞病：长期存活病例报告
BMJ Case Rep. 2014 Mar 7;2014:bcr2013200884. doi: 10.1136/bcr-2013-200884.
4
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.丑角样鱼鳞病：45例临床及分子学研究结果综述
Arch Dermatol. 2011 Jun;147(6):681-6. doi: 10.1001/archdermatol.2011.9. Epub 2011 Feb 21.
5
Harlequin ichthyosis unmasked: a defect of lipid transport.丑角样鱼鳞病的真相：脂质转运缺陷
J Clin Invest. 2005 Jul;115(7):1708-10. doi: 10.1172/JCI25736.