中国麻风皮肤病杂志 ›› 2020, Vol. 36 ›› Issue (1): 38-40.doi: 10.12144/zgmfskin202001038

• 病例报告 • 上一篇    下一篇

迟发性皮肤卟啉症一例

于越乾1，2，3,暴芳芳2,3,付希安2,3,刘永霞2,3,周桂芝2,3,刘红2,3   

  1. 1济南大学 山东省医学科学院 医学与生命科学学院，济南，250000；
    2山东第一医科大学附属皮肤病医院（山东省皮肤病医院），济南，250022；
    3山东省皮肤病性病防治研究所，济南，250022
  • 出版日期:2020-01-15 发布日期:2020-03-17
  • 通讯作者: 刘红，E-mail：hongyue2519@hotmail.com

Porphyria cutanea tarda: a case report

YU Yueqian1,2,3, BAO Fangfang2,3, FU Xi'an2,3, LIU Yongxia2,3, ZHOU Guizhi2,3, LIU Hong2,3   

  1. 1 School of Medicine and Life Science, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250000, China; 2 Skin Diseases Hospital Affiliated to Shandong First Medical University (Shandong Provincial Hospital for Skin Diseases), Jinan 250022, China; 3 Shandong Provincial Institute of Dermatology and Venereology，Jinan 250022, China
  • Online:2020-01-15 Published:2020-03-17
  • Contact: LIU Hong, E-mail: hongyue2519@hotmail.com

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摘要： 患者，男，23岁。面颈部及双手背红斑、水疱、破溃2年，光敏感性和皮肤脆性增加，摩擦后加重。家族中无类似病史。血卟啉阴性；尿卟啉阳性；抗核抗体阴性。通过直接测序的方法对患者UROD基因10个外显子进行测序，未发现有害致病突变。组织病理示表皮下水疱形成，真皮上部血管内及血管壁周围糖蛋白沉积。诊断迟发性皮肤卟啉症，给予羟氯喹200 mg每日两次。

Abstract: A 23-year-old male presented with photosensitivity and skin fragility as well as erythema, blistering, erosions on sun-exposed sites. The patient has no similar family history. The blood porphyrin test and antinuclear antibody test were negative. The urine porphyrin test was positive. The 10 exons of UROD gene were sequenced by direct sequencing, and no harmful and pathogenic mutations were found. Histopathological examination revealed subepidermal blisters, glycoprotein deposition of perivascular wall in the superficial dermis. The patient was diagnosed with porphyria cutanea tarda and treated with oral hydroxychloroquine 200 mg twice a day.