Vesiculo-bullous mucocutaneous disease: benign mucous membrane and bullous pemphigoid

Bullous pemphigoid (BP) and benign mucous membrane pemphigoid (BMMP) are autoimmune diseases characterised by subepithelial bulla formation and showing substantial overlap in clinical signs and symptoms. BP principally involves skin and BMMP the oral mucosa and eyes. The gingiva are affected in 90% of cases of BMMP and buccal mucosa and palate in up to 30%. Lesions may heal with scarring. Extension into the pharynx and esophagus causes sore throat and dysphagia. Severe ocular involvement may cause blindness. Bulla formation is attributed to complement activation, following IgG binding to the basement membrane zone, with subsequent polymorphonuclear leukocyte accumulation. The target antigen in BP is a 180-230 kD protein associated with the basilar membrane of basal keratinocytes. The gene encoding the BP antigen has been partially cloned. It is likely that the same antigen is involved in BMMP, but the mechanism of scarring is not understood. Treatment of BP and BMMP includes systemic steroid and azathioprine therapy and topical steroids.     

Vulvar cicatricial pemphigoid in a child

Cicatricial pemphigoid is a rare disease primarily affecting the elderly. Only a few cases of childhood cicatricial pemphigoid have been reported in the literature. We present a case of cicatricial pemphigoid involving the vulvar region in a child.     

大疱性类天疱疮与HLA-DRB1等位基因相关性研究

目的:研究大疱性类天疱疮与HLA-DRB1等位基因相关性.方法:采用聚合酶链反应-序列特异性引物(PCR-SSP)技术,检测大疱性类天疱疮患者HLA-DRB1等位基因.结果:大疱性类天疱疮患者组中,HLA-DRB1*110S和HLA-DRB1*120S等位基因频率均较正常对照组明显增高,有显著性差异(HLA-DRB1*110X:X2=3.87,RR=2.71,P＜0.05;HLA-DRB1*120S:X2=5.298,RR=3.17,P＜0.05).结论:大疱性类天疱疮与HLA-DRB1*110X和HLA-DRB1*120X有显著相关性.     

配戴亲水软性角膜接触镜治疗青光眼大疱性角膜病变

目的：评价配戴亲水软性角膜接触镜治疗绝对期青光眼导致的大疱性角膜病变的疗效及安全性。方法：给５６ 例５６ 眼因年老体弱,不能或不愿手术治疗而症状明显的绝对期青光眼大疱性角膜病变患者长期连续配戴软性角膜接触镜治疗,并戴镜滴用抗生素及皮质类固醇眼液。结果：大疱性角膜病变症状在戴镜后１ ～３ 天内明显改善者９８．２％ ,１ 周内均解除者９６．４％ 。有８９．２％ 的病例连续戴镜不取出超过３ 个月,平均８ ．８±１０．２ 个月。仅３２．１％ 的患眼出现角膜新生血管,未见继发感染者。结论：连续配戴亲水软性角膜接触镜能解除绝对期青光眼所致的大疱性角膜病变症状,且安全、简便、易行,尤其适用于不能或不愿接受手术治疗的患者。     

Development of an ELISA for the detection of autoantibodies to BP230

Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disease associated with autoantibodies against the transmembrane hemidesmosomal protein BP180/collagen type XVII and the intracellular plaque protein BP230. The aim of the present study was to develop an ELISA system for the detection of circulating autoantibodies to BP230. We generated five overlapping cDNA constructs covering the entire length of BP230 and expressed them in baculovirus-infected Sf21 insect cells. ELISA reactivity against BP230 was found in 63% of 56 BP patients' sera; the specificity of the ELISA was 93%. Epitope mapping studies showed that the fragment representing the C-terminal portion of BP230 was by far the most frequent target within the molecule. This ELISA provides a useful tool for the detection of autoantibodies to BP230 in BP and other diseases associated with an autoimmune response to this protein.     

Serological and immunohistochemical detection of human herpesvirus 8 in Kaposi''s sarcoma after immunosuppressive therapy for bullous pemphigoid

Kaposi's sarcoma (KS) developed in an 87-year-old human immunodeficiency virus-negative woman from Hokkaido island 4 months after oral administration of prednisolone for the treatment of bullous pemphigoid (BP), and rapidly disseminated to almost the entire body within 2 months. The open reading frame (ORF) 59 and ORF73 proteins encoded by human herpesvirus 8 (HHV-8) were detected immunohistochemically in the nuclei of the tumour cells of KS. The protein coded by ORF73, latent protein, was detected in most of the nuclei of the tumour cells, but only a few tumour nuclei were positive for the ORF59 protein, a lytic protein expressed during active infection. The antibodies against both lytic and latent proteins of HHV-8 were detected retrospectively in the serum 4 months before the appearance of KS and before prednisolone therapy had been started. Immunosuppression associated with the treatment for BP possibly activated latent HHV-8 infection and induced the development of KS.     

Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy

Abstract Plectin, a widespread cytoskeletal linker protein, is prominently expressed in basal keratinocytes of the epidermis. HD1, originally identified as a hemidesmosomal protein, has been suggested to be an isoform of or closely related to plectin, but the exact relationship between these proteins is unknown. Plectin has recently been identified as the gene/protein system at fault in epidermolysis bullosa simplex associated with muscular dystrophy (EBS-MD; OMIM# 226670). In this study, we examined the expression patterns of plectin and HD1 epitopes in the skin of four unrelated patients with EBS-MD confirmed to be caused by plectin gene mutations. By indirect immunofluorescence, all monoclonal antibodies (mAbs) to plectin (5B3, 10F6) or to HD1 (121, E2, K15, 156) bound to the epidermal basement membrane zone (BMZ) of normal human skin. In addition, immunostaining along the periphery of keratinocytes was detected with mAbs 5B3, 10F6 (antiplectin), K15 and 156 (anti-HD1), but not with mAbs 121 and E2 (anti-HD1). Immunolabeling for mAbs 5B3 and 10F6 (antiplectin) was absent in the skin of three patients who had premature termination codon mutations in the plectin gene in both alleles. In contrast, labeling was only slightly reduced in a patient who was homozygous for a 9-bp in-frame deletion mutation in the same gene. Interestingly, peripheral labeling of keratinocytes using mAbs K15 and 156 (anti-HD1) was clearly present in all the patients despite the disappearance of BMZ labeling. Quantitative analysis by postembedding immunoelectron microscopy demonstrated that both plectin and HD1 epitopes were localized in the inner plaque of hemidesmosomes with a mean distance of 110 and 120 nm from the plasma membrane, respectively. These results confirm the molecular heterogeneity of EBS-MD in terms of the expression patterns of plectin and HD1 epitopes which correlate with clinical severity, the pattern of plectin gene mutations and their consequences. Received: 10 February 1999 / Received after revision: 20 May 1999 / Accepted: 11 June 1999