家族性良性慢性天疱疮40例临床分析

目的分析40例山东地区家族性良性慢性天疱疮患者的临床表现、加重因素、病程和治疗等方面特征。方法对17个先证者及其家系患者共40例的临床资料进行了分析。结果(1)发病年龄多在20~40岁,好发于腋窝、腹股沟等皱褶部位;(2)食物、药物、心理等因素可以加重病情;(3)4例患者有乏力的表现,与皮疹严重程度一致;(4)病程超过20年的患者中,多数(10/15)无逐年好转的趋势;(5)对药物治疗的反应个体差异较大,局部结合系统治疗有一定疗效。结论家族性良性慢性天疱疮病程长,有一定加重因素和临床特征,乏力可能是该病的全身症状,阿维A与雷公藤联合应用效果好。     

家族性良性天疱疮

家族性良性天疱疮(OMIM16960)是一种少见的常染色体显性遗传病,以皮损多发与躯体皱褶部位、反复发生水疱和大疱为特征.2000年明确其致病基因为ATP2C1,疾病的发生由编码人类分泌途径Ca2+/Mn2+-ATP酶蛋白1(hspcA)的ATP2C1基因的杂合突变引起.目前已经检测到100余种突变点.对文献资料中有关家族性良性天疱疮病因、发病机制、临床表现、病理组织学、治疗等方面的内容进行总结,为家族性良性天疱疮疾病研究提供参考.     

慢性家族性良性天疱疮16例临床与病理分析

目的探讨慢性家族性良性天疱疮(CFBP)的临床、病理学特点,以提高对本病的认识。方法分析经病理学确诊的16例CFBP的临床资料、组织病理及治疗。结果男10例,女6例,平均年龄37.8岁,平均病程10.56年,发病年龄3～52岁;7例有家族史。皮损好发于腹股沟、腋窝、肛周,泛发者1例;表现为在红斑/外观正常皮肤上出现水疱或丘疹伴糜烂渗液,呈扁平柔软、湿润增殖面;1例合并银屑病。组织病理学检查16例均见棘层松解如倒塌砖墙样,11例伴角化过度、松解上方灶性角化不全,13例见角化不良细胞,9例角质层/棘层上部见圆体,5例见谷粒,12例见棘层松解边缘棘层肥厚及表皮突延长;直接免疫荧光检查均阴性。口服小剂量强的松等治疗约2周可以改善临床症状,但易反复。结论本病病程长,43.75%有阳性家族史,临床易误诊为湿疹或增殖型天疱疮,组织病理学检查发现倒塌砖墙样棘层松解及直接免疫荧光检查为阴性有诊断及鉴别诊断价值,但缺乏有效治疗。     

几种大疱性皮肤病合并症文献复习

大疱性皮肤病常与其它疾病合并发生 ,本文查阅了 1980年至 1997年国内主要杂志有关本类疾病合并症的病例报告 ,对其进行综合分析 ,总结如下 :1　临床资料1 1　 病例　 1980年至 1997年国内主要杂志相关病例报告共49例 ,其中男 39例 ,女 10例。男女之比 3 9∶1。1 2　发病年龄　 2 2岁～ 80岁。其中 45岁以上的 41例(91 8% ) ,45岁以下的 8例 (8 2 % )。1 3　病种　天疱疮 2 7例 ,类天疱疮 17例 ,疱疹样皮炎 2例 ,家族性良性慢性天疱疮 3例。1 4　合并症的类型1 4 1　肿瘤 2 3例　除 1例胸腺瘤外 ,其余 2 2例均为恶性肿瘤。胃癌 6例 ;结肠癌…     

家族过敏史在遗传过敏性皮炎患者中的意义

为了解家族过敏史在遗传性过敏性皮炎(AD)患者临床及实验室方面所起的作用,我们将确诊为AD的年龄>2岁的158例患者按有无家族过敏史分成二组(89和69例),分别观察个人及家族过敏史、皮损形态和范围、五项伴发症状及某些实验室指标。结果显示有或无家族过敏史的患者发病年龄<2岁者分别占92.1%和84.1%,连续发病55.1%和43.5%,间断时间平均5.7年和9.6年,呼吸道过敏的平均发生年龄分别为哮喘4.1岁和6.2岁,过敏性鼻炎8.8岁和11.1岁。皮损范围和形态、五项伴发症状差异不大,个人及家族中以哮喘患病率高.并以Ⅰ、Ⅱ级亲属较高。个人及家族有呼吸道过敏史者其血清总IgE高于无过敏史者(P<0.01)。其他各项指标P>0.05。结论:有家族过敏史的AD患者比无家族过敏史者发病年龄较早.连续发病较多,间断时间较短,呼吸道过敏的平均发生年龄较早,个人及家族中以哮喘患病率高,近亲的过敏史比远亲更有价值,个人及家族有呼吸道过敏对患者总IgE有重要影响,并且总IgE升高与皮损严重度一致。     

大疱性系统性红斑狼疮六例临床病理分析

目的 总结大疱性系统性红斑狼疮(BSLE)的临床特点、治疗及预后.方法 回顾性分析2009年5月至2015年9月诊治的6例BSLE患者临床资料.结果 男2例,女4例,平均发病年龄34岁.6例均表现为红斑或正常皮肤上出现张力性水疱、大疱,3例水疱、大疱排列呈环状.6例患者SLE疾病活动指数评分均大于4.皮损组织病理示表皮下水疱或裂隙;直接免疫荧光均表现为基底膜带线状IgG、IgM、IgA沉积,其中基底膜带线状C3沉积4例,线状C1q沉积2例.6例均予糖皮质激素、羟氯喹治疗;2例加用环磷酰胺.随访6例均发生程度不一的不良反应.结论 BSLE多见于中青年,皮损组织病理示表皮下水疱或裂隙,直接免疫荧光见基底膜带线状IgG、IgM、IgA或C3沉积.     

家族性慢性良性天疱疮1家系8例报告

1家族性慢性良性天疱疮家系4代25人发现8例患病者,其中男4例,女4例,男女患病机会均等,发病年龄多在20～30岁,皮疹始发部位不一。季节、出汗、搔抓、饮酒、情绪等因素会加重皮疹。遗传方式:常染色体显性遗传。诊断:家族性慢性良性天疱疮。     

家族性良性慢性天疱疮1例

家族性良性慢性天疱疮 (家良慢 )是一少见的遗传性疾病 ,现将我们所见的 1例报告如下。先证者 ,男 ,32岁 ,农民。 10年前始于腋窝、腹股沟出现水疱 ,易于破溃 ,糜烂结痂反复发作 ,并逐渐向周围扩展 ,后逐渐累及颈、脐周、肛周 ,皮疹冬轻夏重 ,曾在多家医院诊治 ,一直以“湿疹”处理。查体 :颈、腋窝、脐周、腹股沟和肛周见浅表增生性糜烂面 ,边缘有少数小水疱 ,尼氏征 (+) ,浅表淋巴结未及肿大 ,未见粘膜损害。病理检查示表皮内水疱 ,棘层细胞松解 ,诊断为家族性良性慢性天疱疮。给予雷公藤多甙片、红霉素片口服 ,1:5 0 0 0ＰＰ外洗湿敷、氯…     

大疱及疱疹性皮肤病

20 0 4 10 2 2　寻常型天疱疮与大疱性类天疱疮皮损原位细胞凋亡研究/林有坤(广西医大一院皮肤科)…∥实用医学杂志.- 2 0 0 3,19(9) .- 96 2～96 3采用原位细胞凋亡检测(TU N EL )方法研究角质形成细胞凋亡与寻常型天疱疮(PV)、大疱性类天疱疮(BP)病情严重性、病程、治疗转归之间关系。结果显示,性别、年龄、病程、治疗后评分、住院天数、激素总量对PV和BP的凋亡指数影响均无统计学意义(P >0 .0 5) ,PV的治疗前评分高者凋亡指数较高(P <0 .0 1) ,PV与BP凋亡指数均明显高于对照组(P均<0 .0 1)。角质形成细胞凋亡发生部位:PV在疱内…     

外伤诱发自身免疫性大疱性皮肤病三例

目的 总结皮肤外伤诱发自身免疫性大疱性皮肤病的临床特点、组织病理学表现等,探讨其可能的发病机制.方法 分析3例由皮肤外伤所诱发的天疱疮或类天疱疮患者的临床表现、组织病理特点及治疗,结合国内外相关文献讨论与总结.结果 3例自身免疫性大疱性皮肤病患者,女1例,男2例,年龄分别为62、60、71岁,由外伤或手术诱发,与发病间隔时间分别为5周、5周和3d,分别确诊为大疱性类天疱疮(BP180抗体109 U/ml,BP230抗体阴性)、寻常型天疱疮(Dsg1抗体68.8 U/ml,Dsg3抗体219 U/ml)和落叶型天疱疮(Dsg1抗体143 U/ml,Dsg3抗体阴性).经糖皮质激素系统和(或)外用治疗后皮疹均明显好转.结论 外伤可能是自身免疫性大疱性皮肤病的1个诱发因素.对于外伤后伤口愈合不良或皮肤出现红斑、水疱、糜烂,用外伤或手术难以解释时,都应警惕自身免疫性大疱性皮肤病的可能,及时行组织病理或免疫病理检查.     

Familial Bullous Lichen Planus (FBLP): Pedigree Analysis and Clinical Characteristics

BACKGROUND: Familial bullous lichen planus (FBLP) is a rare condition. The clinical features dearly have been described. OBJECTIVE: We report the largest patient series of FBLP and describe its clinical characteristics and inheritance pattern. METHODS: In this retrospective chart review, we analyzed nine consecutive familial pedigrees of FBLP with 36 affected individuals who presented to the Department of Dermatology at the Wuhan Union Hospital, a tertiary referral hospital in central China. Parameters analyzed include age of onset, gender predilection, lesional distribution, nail and mucosal involvement, clinical course, and inheritance pattern. RESULTS: Thirty-six of 85 individuals in the nine families were affected (42.4%). Females were more likely to be affected than males (58.3% vs 35.7%, G(chi 2 = 3.99. P < 0.05). A bimodal disease onset was found, with one peak at 1-3 years and another at 13-17 years. The shin is the most commonly affected area (97%) followed by the upper limbs and the thighs. Involvement of the torso is relatively rare. Only a minority of cases involves the oral mucosa. The disease tends to follow a chronic and progressive course. The inheritance pattern is autosomal dominant with variable penetrance. CONCLUSION: Familial bullous lichen planus is a chronic, progressive bullous eruption of the lower and upper extremities. Compared with non familial bullous lichen planus, it has an earlier onset and wider disease distribution. It may be inherited as an autosomal dominant condition with variable penetrance.     

Bullous lichen planus and lichen planus pemphigoides-clinico-pathological comparisons

Two patients with lichen planus pemphigoides and two with bullous lichen planus were compared. Lichen planus pemphigoides was clinically distinguished by a more generalized lichen planus, more extensive blistering, the need for systemic corticosteroids and by a longer course. The blister of bullous lichen planus was a subepidermal bulla showing degeneration of the epidermal basal layer and other features of lichen planus, whereas in lichen planus pemphigoides the bulla was similar to that of bullous pemphigoid albeit with rather more neutrophils than are usually seen. Direct immunofluorescence was positive in lichen planus pemphigoides and negative in bullous lichen planus. Lichen planus pemphigoides and bullous lichen planus are separate entities: the former is an auto-immune disease precipitated by lichen planus and not related to bullous pemphigoid, the latter is probably not auto-immune but represents the extreme consequence of the lymphoid infiltrate at the dermo-epidermal junction.     

Childhood Lichen Planus Pemphigoides: A Case Report and Review of the Literature

Abstract:  Lichen planus pemphigoides is a rare autoimmune blistering disease that is characterized by evolution of vesico-bullous skin lesions in patients with active lichen planus. We describe a case of lichen planus pemphigoides in a 6-year-old boy and review the clinical and immunopathologic features of all reported cases of pediatric lichen planus pemphigoides. The mean age at onset of childhood lichen planus pemphigoides is 12 years with a male to female ratio of 3:1 and a mean lag-time between lichen planus and the development of lichen planus pemphigoides of 7.9 weeks. Vesiculo-bullous lesions were found on the extremities in all patients and there was palmoplantar involvement in about half of the cases. Direct and indirect immunofluorescence features were similar to those reported in adults. One patient had Western immunoblot data revealing antigens of 180, 230, and 200 kDa. Immunoelectron microscopy in two cases showed localization of immune deposition different from that in bullous pemphigoid. We found that topical corticosteroids or oral dapsone caused resolution of lichen planus pemphigoides without known relapse of blistering in four cases, suggesting that it might be possible to reserve oral corticosteroids as a second line of therapy in children with lichen planus pemphigoides.     

Familial lichen planus

We observed the simultaneous occurrence of generalized lichen planus in a woman and her mother. Both patients improved after therapy with topical steroid and salicylic acid ointment. Of the eighty-one cases of familial lichen planus previously reported, the vast majority (89 percent) occurred in blood relatives. The intervals of onset between familial cases were long, ranging from six weeks to thirty years (mean 73.4 months). These observations suggest that familial lichen planus may result from genetic predisposition, rather than from an infectious cause.     

Lichen planus in 24 children with review of the literature

Lichen planus is a disease generally considered uncommon in children. Our objective was to obtain epidemiologic data retrospectively and determine the clinical characteristics of lichen planus in Mexican children seen in our dermatology department. We found 235 patients with the clinical and histologic diagnosis of lichen planus seen over a period of 22 years and 7 months. Twenty-four (10.2%) of these patients were children (15 years of age or younger). The ratio of male to female was 1:1.2. The main clinical pattern was classic lichen planus (43.5%). Mucous membrane and nail involvement were uncommon. No family history of lichen planus or systemic disease was noted. In the international literature, the frequency of lichen planus varied from 2.1% to 11.2% of the pediatric population. In the majority of studies no significant gender predominance was identified. Most patients had the classic variety of lichen planus. Reported mucosal involvement was rare, except in India and Kuwait. Frequency of nail involvement ranged from 0% to 16.6%. Little evidence of systemic disease or family history was found.     

Familial lichen planus

Familial lichen planus (FLP) was observed to have developed within a period of 3 years in 2 sisters as well as in the son of one of the women. In contrast to typical FLP, the eruption was generalized in only 1 of these patients; no atypical forms were observed; the response to topical treatment with steroids was rapid, and the relapses were few and mild. Previous reports of familial cases of lichen planus as well as the long interval between onset of the disease in the affected members of the family speak in favor of a genetic predisposition. HLA typing revealed HLA DR in all 3 patients. There was no increased incidence of HLA B7, HLA A3 or HLA A28.     

Autoantibodies in lichen planus pemphigoides react with a novel epitope within the C-terminal NC16A domain of BP180.

Lichen planus pemphigoides is an autoimmune subepidermal blistering disease. The finding of immunoglobulin G antibodies directed against the basement membrane zone differentiates it from bullous lichen planus. The aim of this study was to identify the target antigen of lichen planus pemphigoides autoantibodies. Sera from lichen planus pemphigoides patients (n = 4) stained the epidermal side of NaCl-split human skin in a pattern indistinguishable from that produced by bullous pemphigoid sera. In bullous pemphigoid, the autoimmune response is directed against BP180, a hemidesmosomal transmembrane collagenous glycoprotein. We previously demonstrated that bullous pemphigoid sera predominantly react with a set of four epitopes (MCW-0 through MCW-3) clustered within a 45 amino acid stretch of the major noncollagenous extracellular domain (NC16A) of BP180. By immunoblotting and enzyme-linked immunosorbent assay, lichen planus pemphigoides sera were also strongly reactive with recombinant bullous pemphigoid 180 NC16A. The lichen planus pemphigoides epitopes were further mapped using a series of overlapping recombinant segments of the NC16A domain. All lichen planus pemphigoides sera reacted with amino acids 46-59 of domain NC16A, a protein segment that was previously shown to be unreactive with bullous pemphigoid sera. Two lichen planus pemphigoides sera, in addition, reacted with the immunodominant antigenic region associated with bullous pemphigoid. In conclusion, there are now five bullous diseases that are associated with an autoimmune response to BP180: bullous pemphigoid; pemphigoid/herpes gestationis; cicatricial pemphigoid; linear immunoglobulin A disease; and lichen planus pemphigoides. In addition, we have identified a novel epitope within the BP180 NC16A domain, designated MCW-4, that appears to be uniquely recognized by sera from patients with lichen planus pemphigoides.     

Lichen planus pemphigoides: another paraneoplastic bullous disease?

Background Despite a long-standing controversy regarding the classification of lichen planus associated with blistering, it seems likely today that bullous lichen planus and lichen planus pemphigoides are separate entities. Patients In this presentation two patients are described: a 56-year-old female with bullous lichen planus developed on persisting lesions over a period of I year and an 83-year-old female who developed lichen planus pemphigoides during the course of thyroid-gland carcinoma. Conclusion Each of these two entities has its own clinical, histological. immunohistological, and immunobiochemical features. Also, the outcomes seem to be different since lesions of bullous lichen planus usually resolve after a rather short period of time: persistent lesions may possibly develop into squamous cell carcinoma. In contrast, lichen planus pemphigoides is likely to be a paraneoplastic disorder.     

Lichen planus patients and stressful events

Purpose To evaluate the possible role of stress before the onset/extension of lichen planus. Patients and method Forty‐six outpatients with lichen planus were enrolled. The design was a case‐control study (controls had skin diseases with low psychosomatic component). Stressful situations were evaluated using Holmes and Rahe's social readjustment rating scale. Results Lichen planus had an incidence of 0.36% among dermatological conditions. In the lichen planus group, there was a female predominance (76%) and a median age around 50 years. More than 67% of cases experienced at least one stressful event, compared with 21% of controls (χ² = 17.58, P < 0.001). The odds ratio was 7.44. There was a borderline significant difference in the mean number of stressful events between lichen planus patients and controls (P = 0.06). We divided the situations described by Holmes and Rahe into three categories: family, personal, and job or financial problems. The presence of major life events was significant different in patients and controls (P = 0.005). Family matters were described by 43.6% of lichen planus patients, statistically significant compared with controls (P = 0.002). In almost 25% of cases of lichen planus, ‘the stressful event’ was represented by the illness or death of someone dear. ‘Personal problems’ seemed to be important compared with controls (P = 0.04), exams representing 25% of these matters. There was no difference between the patients and controls regarding the importance of job or financial changes. Conclusion Stressful situations, especially related to family, may have a role in the onset and extension of lichen planus lesions.     

Lichen planus: a clinical and epidemiological study

Clinical and epidemiological data from 232 patients with lichen planus is presented. Lichen planus constituted 0.38% of the total dermatology, outpatients diagnosed. The patient ages ranged from 8 to 76 years, most being in the age range from 20 to 49 years. Duration of disease varied from 1 month to 7 years. Both sexes were equally affected. The majority of the patients (47.4%) had classical lesions followed by hypertrophic and actinic lichen planus next in frequency. Itching was the predominant symptom in 79.3%. Limbs were the most frequent initial site of onset (55.6%). Mucosal involvement along with cutaneous lesions were observed in 16.8% and genital involvement in only 5.2%. Nail changes were observed in 15.1% of patients. A history of recurrence of the disease was obtained from 10.3% of patients. Liver disease was found to be associated in 2.2% of patients. No malignant changes were observed in any of the lesions of lichen planus.