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。