中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (1): 45-48.doi: 10.12144/zgmfskin202601045

• 病例报告 • 上一篇    下一篇

表皮松解性鱼鳞病一例

黄晓慧1，2,邹雄鹰1,钟伟龙1，3，4,温楚烨1，2,卢安童1,于波1，3，4,吴瑕1，3，4,黄海艳1，3，4   

  1. 1北京大学深圳医院皮肤性病科，广东深圳，518036；2南方科技大学，广东深圳，518055； 3深圳皮肤疾病转化医学重点实验室，广东深圳,518036； 4深圳北京大学香港科技大学医学中心皮肤病研究所，广东深圳，518036
  • 出版日期:2026-01-15 发布日期:2026-01-15

Epidermolytic ichthyosis: a case report

HUANG Xiaohui1，2, ZOU Xiongying1, ZHONG Weilong1，3，4, WEN Chuye1，2, LU Antong1, YU Bo1，3，4, WU Xia1,3,4, HUANG Haiyan1,3,4   

  1. 1 Department of Dermatology, Peking University shenzhen Hospital, Shenzhen 518036, China; 2 Southern University of Science and Technology, Shenzhen 518055, China; 3 Shenzhen Kdy Laboratory for Translational Medicine of Dermatology, Biomedical Research Institute, Shenzhen Peking University-the Hong Kong University of Science and Technology Medical Center, Shenzhen 518036, China; 4 Institute of Dermatology, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen 518036, China
  • Online:2026-01-15 Published:2026-01-15

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摘要： 患者，女，38岁，自出生以来全身皮肤干燥及角化增厚。皮损组织病理可见表皮松解性角化过度。对患者及父母采集外周血进行基因检测，发现患者存在KRT1基因致病性突变,其父母该位点均未见异常。根据临床表现、病理和基因检测结果，确诊为表皮松解性鱼鳞病。给予口服异维A酸胶囊、尿素乳膏皮肤保湿护理及破损糜烂部位予高锰酸钾溶液湿敷治疗。患者用药1个月后自诉全身皮疹好转、停药，目前仍在随访中。

关键词: 表皮松解性鱼鳞病, KRT1基因突变

Abstract: A 38-year-old female patient presented with generalized cutaneous xerosis and hyperkeratosis since birth. Histopathological examination of the lesional skin revealed epidermolytic hyperkeratosis. Peripheral blood samples were collected from the patient and her parents for genetic testing, which identified a pathogenic mutation in the KRT1 gene in the patient, while no abnormalities were detected in either parent. Based on the clinical manifestations, histopathological findings, and genetic testing results, the patient was diagnosed with epidermolytic ichthyosis. Treatment was initiated with oral isotretinoin capsules, topical urea cream for skin moisturization, and potassium permanganate solution wet compresses for eroded or broken skin lesions. The patient reported significant improvement of generalized rashes after 1 month of medication and discontinued treatment voluntarily. She is currently under regular follow-up.

Key words: epidermolytic ichthyosis, KRT1 mutation