获得性大疱性表皮松解症20例临床及免疫血清学特征分析

Clinical and immunoserological features of 20 cases of epidermolysis bullosa acquisita

目的总结获得性大疱性表皮松解症患者的临床和免疫血清学特征。方法收集2017年1月至2022年1月在中国医学科学院皮肤病医院确诊为获得性大疱性表皮松解症患者的资料,回顾性分析其临床和免疫血清学特征。结果共纳入20例患者,男7例、女13例,年龄(41.85±18.43)岁。10例呈经典型,8例呈炎症型,2例呈混合型改变。19例出现黏膜受累,4例指(趾)甲受累,9例形成瘢痕,13例留有粟丘疹。盐裂皮肤-间接免疫荧光检查:19例IgG真皮侧阳性。Ⅶ型胶原酶联免疫吸附试验:19例阳性,诊断敏感性为95%;免疫印迹实验:16例在相对分子质量290000处有条带,诊断敏感性为80%,3例存在多种抗基底膜带抗原的自身抗体。15例患者接受系统糖皮质激素治疗,其中2例联合免疫抑制剂,13例使用抗炎药,最常用的为氨苯砜,其次为秋水仙碱;5例接受非糖皮质激素治疗的患者中,2例炎症型对氨苯砜及秋水仙碱治疗敏感,3例失访。随访17例,平均随访时间26.21个月,其中1例达到完全缓解停药,2例达到最小量治疗保持完全缓解,14例病情减轻,但未达到完全缓解。结论获得性大疱性表皮松解症治疗相对困难,常需使用氨苯砜及秋水仙碱等抗炎药,免疫血清学方法在获得性大疱性表皮松解症的诊断中具有较高应用价值。

Objective To analyze clinical and immunoserological features of patients with epidermolysis bullosa acquisita(EBA).Methods Clinical data were collected from patients with confirmed EBA at the Hospital of Dermatology,Chinese Academy of Medical Sciences from January 2017 to January 2022,and their clinical and immunoserological characteristics were retrospectively analyzed.Results A total of 20 patients were collected,including 7 males and 13 females,and they were aged 41.85±18.43 years.Ten patients presented with the classical phenotype of EBA,8 with the inflammatory phenotype of EBA,and 2 with the mixed phenotype of EBA.Mucosal involvement occurred in 19 cases,nail involvement occurred in 4,scarring was observed in 9,and milia in 13.Indirect immunofluorescence on salt-split skin showed IgG deposition on the dermal side in 19 cases.Enzyme‐linked immunosorbent assay for typeⅦcollagen revealed positive results in 19 cases,with a diagnostic sensitivity of 95%.Western blot analysis with dermal extracts as substrates revealed a protein band with a relative molecular mass of 290000 in 16 cases,with a diagnostic sensitivity of 80%,and multiple autoantibodies against different basement membrane zone antigens were identified in 3 cases.Fifteen patients received systemic glucocorticoids,including 2 receiving combined immunosuppressive agents and 13 receiving combined anti-inflammatory agents with dapsone and colchicine as the first and second commonly used anti-inflammatory agents respectively;among 5 patients receiving non‐glucocorticoid therapy,2 with inflammatory EBA were sensitive to dapsone and colchicine,while the other 3 patients were lost to follow-up.Totally,17 patients were followed up for an average duration of 26.21 months.Among the 17 patients,1 achieved complete remission off therapy,2 achieved complete remission on minimal therapy,and the remaining 14 patients achieved partial remission.Conclusions The treatment of EBA is challenging,and anti-inflammatory agents such as dapsone and colchicine are often used.Immunoserological tests are of great value in the diagnosis of EBA.