Janela Raphaël, Ishii Norito, Castel Marion, Jouen Fabienne, Cellier Lucie, Courville Philippe, Joly Pascal, Hébert Vivien
Department of Dermatology, Rouen University Hospital, Normandie University, Rouen, France.
Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
Front Immunol. 2023 Mar 15;14:1134720. doi: 10.3389/fimmu.2023.1134720. eCollection 2023.
We describe a series of patients whose auto-immune bullous skin disease (AIBD) of the dermal-epidermal junction (DEJ) was characterized by clinical, immunological and ultrastructural features intermediate between bullous pemphigoid (BP) and mucous membrane pemphigoid (MMP), and a recalcitrant course.
From the database of the French reference centre for AIBD, we screened all the patients who were referred for an AIBD of the DEJ with a mucosal involvement, who neither met the diagnostic criteria for the diagnosis of BP, nor were typical of MMP. Sera were analysed by NC16A-ELISA and immunobloting against the C-terminal and LAD-1 parts of BP180. Skin biopsies were studied by direct immunoelectron microscopy (IEM).
Fifteen patients (4 males, 11 females) of mean age 70.8 ± 11.8 years were included. The mucosal involvement was localized in oral cavity in all cases and in pharyngeal/laryngeal or genital area in 8 (53%), and 6 patients (40%), respectively. No patient had ocular involvement, nor atrophic or fibrosing scars. All patients had extensive skin lesions (mean BPDAI score =65.9 ± 24.4), which predominated on the upper body part. Direct IEM performed on 8 patients showed IgG deposits on the lamina lucida in all cases, and the lamina densa in 5 cases. All sera recognized NC16A, while none recognized BP-230 in ELISA. 10 out of the 13 tested sera (76.9%) contained IgG which recognized the C-terminal domain of BP180 and 10 sera (76.9%) the LAD-1 domain of BP180. Patients poorly responded to super potent topical corticosteroids and were treated with oral corticosteroids ± immunosuppressant in 13 cases (86.6%).
This mixed muco-cutaneous pemphigoid differs from BP by the younger age of patients, multiple mucosae involvement, circulating antibodies against both the C- and N-terminal part of BP180, and very poor response to topical CS. It differs from MMP by extensive inflammatory skin lesions, absence of ocular involvement and atrophic/fibrosing scars.
我们描述了一系列患者，其皮肤-表皮交界处的自身免疫性大疱性皮肤病（AIBD）具有临床、免疫学和超微结构特征，介于大疱性类天疱疮（BP）和黏膜类天疱疮（MMP）之间，且病程顽固。
从法国AIBD参考中心的数据库中，我们筛选了所有因皮肤-表皮交界处AIBD伴黏膜受累而转诊的患者，这些患者既不符合BP的诊断标准，也不具有典型的MMP特征。通过NC16A-ELISA和针对BP180 C末端和LAD-1部分的免疫印迹分析血清。通过直接免疫电子显微镜（IEM）研究皮肤活检标本。
纳入15例患者（4例男性，11例女性），平均年龄70.8±11.8岁。所有病例黏膜受累均局限于口腔，8例（53%）累及咽喉或生殖器区域，分别为6例（40%）。无患者眼部受累，也无萎缩性或纤维化瘢痕。所有患者均有广泛的皮肤病变（平均BPDAI评分=65.9±24.4），以上半身为主。对8例患者进行的直接IEM显示，所有病例在透明板均有IgG沉积，5例在致密板有沉积。所有血清均识别NC-16A，而在ELISA中无一识别BP-230。13份检测血清中有10份（76.9%）含有识别BP180 C末端结构域的IgG，10份血清（76.9%）含有识别BP180 LAD-1结构域的IgG。患者对超强效外用糖皮质激素反应不佳，13例（86.6%）接受口服糖皮质激素±免疫抑制剂治疗。
这种混合性黏膜皮肤类天疱疮与BP的不同之处在于患者年龄较轻、多黏膜受累、循环抗体针对BP180的C末端和N末端部分，以及对外用糖皮质激素反应极差。它与MMP的不同之处在于有广泛的炎症性皮肤病变、无眼部受累以及无萎缩性/纤维化瘢痕。
