Partial epilepsy as an initial manifestation in bullous systemic lupus erythematosus
Partial epilepsy as an initial manifestation in bullous systemic lupus erythematosus
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部分性癫痫是大疱性系统性红斑狼疮的首发表现
作者：
郑捷;潘萌
先生，大疱性系统性红斑狼疮 (BSLE) 是一种罕见、独特的表皮下水疱性疾病，由自身抗体介导，发生于不到 5% 的 SLE 患者。我们报告了一名患有 BSLE 的女性病例，她最初表现为严重头痛和部分癫痫。一名 20 岁的中国女性，无明显既往病史，出现严重、剧烈且持续的额头头痛。她的头痛每天发生几次，每次持续约 5-30 分钟，然后出现脸色苍白和恶心。她的神经系统检查结果正常。然而，脑电图 (EEG) 显示癫痫样放电，伴有尖波和多个尖峰慢波复合体（图 1）。她的脑部磁共振成像（MRI）结果在正常范围内。根据临床表现、脑电图和正常的放射学检查结果，患者被诊断为伴有头痛的部分性癫痫。医生给她开了口服丙戊酸（Depakin）0.5mg，每晚 1 周。症状没有改善，她停止服药。再过 1 周后，她的面部、颈部和胸部等主要暴露在阳光下的皮肤区域出现红斑病变（图 2）。不久之后，红斑病变上出现带有透明液体的水疱和大疱，其中一些合并形成拉长或不规则形状的结构。病变伴有轻度瘙痒。尼科尔斯基征呈阴性。患者否认发热、寒战、关节痛或雷诺现象等全身症状。由于病变涉及嘴唇和口周皮肤，她最初被诊断为全身性单纯疱疹，并根据经验口服阿昔洛韦治疗。然而1周后，她的皮损并没有明显改善。代表性病变的皮肤活检显示表皮下囊泡液化变性，真皮乳头层有广泛的中性粒细胞浸润。从未受影响的皮肤区域进行第二次活检以进行直接免疫荧光研究，结果显示 IgG 和 IgM 沿基底膜线性沉积。通过在含有 1.0mol/l 氯化钠的溶液中孵育病灶周围皮肤来进行盐裂解研究。在裂口的真皮侧发现了 IgG 和 IgM 沉积物，表明自身抗原位于乳头状真皮中（图 3）。使用患者血清和小鼠食道作为底物的间接免疫荧光研究结果呈阴性。根据组织病理学结果，我们的鉴别诊断范围缩小为 BSLE 与获得性大疱性表皮松解症 (EBA)。进行了广泛的血清学研究，结果显示阳性抗核抗体滴度为 1:640，且模式均一。抗史密斯抗体滴度也呈阳性。患者的抗dsDNA抗体水平为1163 IU/dl（参考范围：小于100 IU/dl）。她的其他多种抗体检测结果均为阴性，包括 Ro/SSA、La/SSB、核 RNP 和抗磷脂抗体 (aPL)。其他实验室检查显示红细胞沉降率 (ESR) 升高 58 毫米/小时，白细胞计数减少 (3.2 10/l)，轻度贫血，血红蛋白为 9.8 g/dl。患者无蛋白尿，肾功能正常。 BSLE 的诊断是根据临床表现和组织病理学结果以及抗 dsDNA 和抗 sm 抗体的存在进行的。还考虑了与药物相关的系统性红斑狼疮的可能性，因为患者在被诊断为部分性癫痫后服用了丙戊酸。已知丙戊酸偶尔会诱发狼疮。然而，药物相关的 SLE 的特征是存在抗组蛋白抗体，而不是我们患者中所见的抗 dsDNA 和抗 sm 抗体。此外，大多数药物性狼疮患者在症状出现之前都有长期使用触发药物的病史。此外，在停止相关药物治疗后，2010 年 5 月 12 日收到了随附的临床、免疫学检查； 2011 年 1 月 4 日接受通讯作者：中国上海交通大学医学院附属瑞金医院皮肤科郑杰电子邮件：jie-zheng2001@126.com
Sir, Bullous systemic lupus erythematosus (BSLE) is a rare, distinctive subepidermal blistering disorder that is autoantibody mediated, occurring in fewer than 5% of patients with SLE. We report a case of a woman with BSLE, who initially presented with severe headaches and partial epilepsy. A 20-year-old Chinese woman with no significant past medical history presented with severe, sharp and constant frontal headaches. Her headaches occurred several times a day, with each episode lasting approximately 5–30min, preceded by pallor and nausea. Her neurologic examination was normal. However, an electroencephalogram (EEG) demonstrated epileptiform discharges with sharp waves and multiple spike-and-slow-wave complexes (Figure 1). Her brain magnetic resonance imaging (MRI) was within normal limits. Based on the clinical presentation, EEG and normal radiologic findings, the patient was diagnosed with partial epilepsy associated with headaches. She was prescribed oral Valproic acid (Depakin) 0.5mg per night for 1 week. The symptoms did not improve, and she stopped medication. After a further 1 week, she developed erythematous lesions on the predominantly sun-exposed areas of her skin, such as her face, neck and chest (Figure 2). Soon after, vesicles and bullae with clear fluid appeared over the erythematous lesions, some coalescing to form elongated or irregularly shaped configurations. The lesions were associated with mild pruritus. Nikolsky’s sign was negative. The patient denied systemic symptoms including fever, chills, arthralgias or Raynaud’s phenomenon. As the lesions involved the lips and perioral skin, she was initially diagnosed with generalized herpes simplex and empirically treated with oral acyclovir. After 1 week, however, there was no significant improvement in her skin lesions. A skin biopsy from a representative lesion showed subepidermal vesicles with liquefactive degeneration and extensive neutrophilic infiltration in the papillary dermis. A second biopsy was taken from an area of unaffected skin for direct immunofluorescence study, which revealed IgG and IgM linear deposition along the basement membrane. A salt split study was performed by incubating peri-lesional skin in a solution containing sodium chloride at 1.0mol/l. IgG and IgM deposits were found on the dermal side of the split, indicating that the autoantigen was localized in the papillary dermis (Figure 3). An indirect immunofluorescence study using the patient’s serum and mouse esophagus as substrate was negative. Based on the histopathological findings, our differential diagnosis was narrowed down to BSLE vs. epidermolysis bullosa acquisita (EBA). Extensive serological studies were performed, which revealed a positive antinuclear antibody titer of 1:640 with a homogeneous pattern. The anti-Smith antibody titer was also positive. The patient’s anti-dsDNA antibody level was 1163 IU/dl (reference range: less than 100 IU/dl). She tested negative for various other antibodies, including Ro/SSA, La/SSB, nuclear RNP, and antiphospholipid antibodies (aPL). Other laboratory investigations revealed an elevated erythrocyte sedimentation rate (ESR) of 58mm/h, a reduced white blood cell count (3.2 10/l), and mild anemia with hemoglobin of 9.8 g/dl. The patient had no proteinuria and her renal function was normal. A diagnosis of BSLE was made based on the clinical presentation and histopathological findings, as well as the presence of anti-dsDNA and anti-sm antibodies. The possibility of drug-related SLE was also considered, as the patient had taken valproic acid after she was diagnosed with partial epilepsy. Valproic acid is known to occasionally induce lupus. However, drug-related SLE is characterized by the presence of antihistone antibody, not antidsDNA and anti-sm antibodies as was seen in our patient. Furthermore, the majority of patients with drug-induced lupus have a history of prolonged use of the triggering medication before symptoms manifest. Also, after cessation of the medication in question, the accompanying clinical, immunologic Received 12 May 2010; accepted 4 January 2011 Correspondence to: Jie Zheng, Department of Dermatology, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China Email: jie-zheng2001@126.com
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影响因子：
2.6
作者：
M. Brinciotti;G. Ferrucci;G. Trasatti;R. Priori;E. Squilloni;G. Valesini
通讯作者：
M. Brinciotti;G. Ferrucci;G. Trasatti;R. Priori;E. Squilloni;G. Valesini
DOI：
10.1097/00000441-200402000-00011
发表时间：
2004-02
期刊：
The American journal of the medical sciences
影响因子：
--
作者：
Hsian-Cheng Chen;J. Lai;C. Juan;San-Yuan Kuo;Chen-Hung Chen-Chen-Hung-Chen-2201885;D. Chang
通讯作者：
Hsian-Cheng Chen;J. Lai;C. Juan;San-Yuan Kuo;Chen-Hung Chen-Chen-Hung-Chen-2201885;D. Chang
影响因子：
10.3
作者：
Wong, SN;Chua, SH
通讯作者：
Chua, SH
DOI：
--
发表时间：
2001-11
期刊：
The Journal of the American Board of Family Practice
影响因子：
--
作者：
Juan Dong;S. Suwanvecho;Lugen Chen;Yi-Kong Keung
通讯作者：
Juan Dong;S. Suwanvecho;Lugen Chen;Yi-Kong Keung
DOI：
10.1684/epd.2008.0203
发表时间：
2008-09
期刊：
Epileptic disorders : international epilepsy journal with videotape
影响因子：
--
作者：
M. Kinoshita;R. Takahashi;A. Ikeda
通讯作者：
M. Kinoshita;R. Takahashi;A. Ikeda