Detection of ATP2C1 Gene Mutation in Familial Benign Chronic Pemphigus

Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2CI gene was detected by polymerase chain reaction （PCR） and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was coneluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.

Pseudopemphigoid as caused by topical drugs and pemphigus disease

Pseudopemphigoid can cause a chronic cicatricial conjunctivitis that is clinically identical to the manifestations seen in mucous membrane pemphigoid, a disorder with a common clinical phenotype and multiple autoimmune links. For the purpose of this review, we will describe pseudopemphigoid as caused by topical drugs, the most common etiology with ocular manifestations, and as caused by the pemphigus disease, a more rare etiology. Specifically, we will discuss the ophthalmological features of drug-induced cicatricial conjunctivitis, pemphigus vulgaris, and paraneoplastic pemphigus. Other etiologies of pseudopemphigoid exist that will not be described in this review including autoimmune or inflammatory conditions such as lichen planus, sarcoidosis, granulomatosis with polyangiitis(Wegener's granulomatosis), erythema multiforme(minor, major, and Stevens-Johnson syndrome), bullous pemphigoid, skin-dominated linear IgA bullous dermatosis, and skin-dominated epidermolysis bullosa acquisita. Prompt diagnosis of the underlying etiology in pseudopemphigoid is paramount to the patient's outcome as certain diseases are associated with a more severe clinical course, increased ocular involvement, and differential response to treatment. A completehistory and ocular examination may find early cicatricial changes in the conjunctiva that are important to note and evaluate to avoid progression to more severe disease manifestations. When such cicatricial changes are noted, proper diagnostic techniques are needed to help elucidate a diagnosis. Lastly, collaboration between ophthalmologists and subspecialists such as dermatologists, pathologists, immunologists, and others involved in the care of the patient is needed to ensure optimal management of disease.

Bone cement implantation syndrome during hip replacement in a patient with pemphigus and Parkinson’s disease: A case report

BACKGROUND Bone cement implantation syndrome(BCIS)is characterized by hypotension,arrhythmia,diffuse pulmonary microvascular embolism,shock,cardiac arrest,any combination of these factors,or even death following bone cement implantation.CASE SUMMARY An 80-year-old patient with pemphigus and Parkinson’s disease underwent total hip replacement under spinal subarachnoid block and developed acute pulmonary embolism after bone cement implantation.The patient received mask mechanical ventilation with a continuous intravenous infusion of adrenaline(2μg/mL)at a rate of 30 mL/h.Subsequently,the symptoms of BCIS were markedly alleviated,and the infusion rate of adrenaline was gradually reduced until the infusion was completely stopped 45 min later.The patient was then transferred to the Department of Orthopedics,and anticoagulation therapy began at 12 h postoperatively.No other complications were observed.CONCLUSION This is a rare case of BCIS in a high-risk patient with pemphigus and Parkinson’s disease.

Assessing the Effects of a Health Belief Model-Based Educational Program on Knowledge Attitudes and Practice (KAP) among Patients with <i>Pemphigus vulgaris</i>

Introduction: This study aimed to evaluate the effects of an educational program based on Health Belief Model on knowledge, attitudes and practice (KAP) in patients with Pemphigus vulgaris (PV) referred to Razi Hospital in Iran. Materials and Methods: This quasi-experimental study was conducted on 88 patients in 2013-2014. Subjects were divided into two intervention and control groups using block randomization. In addition to their usual care for both groups, the intervention group sat through a six-month self-care educational program in a specialized outpatient clinic. A self-designed questionnaire was used to gather information about demographic characteristics, PV related variables, and KAP-related questions. Data were analyzed using SPSS Software. p value of less than 0.05 was set as statistically significant. Results: mean scores of KAP increased significantly after intervention compared to control groups when adjusted for baseline differences of these scores and house ownership and employment status differences in two groups. Conclusion: study results show the effectiveness of an HBM based educational program on KAP in PV patients that can lead to adoption of self care behaviors and help them gain self efficacy in controlling their disease and assisting their treatment process, counting as a tertiary preventive measure.

Intra-abdominal inflammatory pseudotumor-like follicular dendritic cell sarcoma associated with paraneoplastic pemphigus: A case report and review of the literature

BACKGROUD Follicular dendritic cell(FDC)sarcomas are rare neoplasms that occur predominantly in the lymph nodes.They can also occur extranodally.Extranodal FDC sarcomas most commonly present as solitary masses.Inflammatory pseudotumor(IPT)-like FDC sarcomas,a subcategory of FDC sarcomas,are rarer than other sarcoma subtypes.They are composed of spindle or ovoid neoplastic cells and exhibit an admixture of plasma cells and prominent lymphoplasmacytic infiltration.Paraneoplastic pemphigus(PNP),also known as paraneoplastic autoimmune multiorgan syndrome,is a rare autoimmune bullous disease that is associated with underlying neoplasms.PNP has a high mortality,and its early diagnosis is usually difficult.CASE SUMMARY We describe a 27-year-old woman who presented with stomatitis,conjunctivitis,and skin blisters and erosions as her first symptoms of PNP with an intraabdominal IPT-like FDC sarcoma.The patient underwent surgical tumor resection and received tapering oral corticosteroid treatment.She showed no recurrence at the 1-year follow-up.CONCLUSION IPT-like FDC sarcomas are rare underlying neoplasms that have an uncommon association with PNP.PNP-associated FDC sarcomas predominantly occur in intra-abdominal sites and suggest a poor prognosis.Surgical resection is an essential and effective treatment for PNP and primary and recurrent FDC sarcomas.

Pemphigus vulgaris macroscopically and cytologically resembling oral squamous cell carcinoma

We describe the clinical, macroscopic, cytological, histopathological, immunohistochemical, serodiagnostic and aspects of pemphigus vulgaris (PV) in the oral gingiva that clinically mimicked oral squamous cell carcinoma (OSCC) in a 57-year-old Japanese man. He developed slight haphalgesia of the buccal gingiva around teeth numbers 18 and 19 2 years ago. A dentist diagnosed intractable ulcer, but the patient ignored the condition for about 2 years until a sharp pain in the gingiva worsened. He consulted an otolaryngologist, who referred the patient to our hospital under a cytological diagnosis of OSCC. An oral examination revealed several extensive painful erosions/ ulcers from the buccal and lingual gingiva around teeth numbers 18 to 21 to the distal alveolar mucosa of no. 18 and the buccal and lingual gingiva around tooth number 31. A presumptive diagnosis of PV with dysplastic changes was determined from cytological smears. The cytological Nikolsky test was positive. The diagnosis of PV was confirmed from clinical and histopathological findings of a biopsy specimen obtained from the perilesional site. Although the definitive diagnosis of PV required only 2 weeks after this patient presented at our hospital, 2 years had elapsed since the onset of oral lesions.

Two Cases of Hallopeau Type of Pemphigus Vegetans in Two Women in Burkina Faso

Pemphigus of Hallopeau (PH) is a mild and pustular form of pemphigus vegetans, termed initially as “pyodermite végétante” described by Hallopeau. We report cases in two black women. Two women aged 32 and 36 respectively (case 1 and case 2) were seen for a pustulosis associated with blisters and erosions. Their history and their review have found the mouth ulcerations. The clinical examination showed pustules on the cephalic end, the trunk, the limbs and the large folds. Lesions had a polycyclic aspect and spread in a centrifugal way, developing towards budding, squamous and scabby erosions quickly surrounded by new pustules. Regression left a pigmented macula. Histological examination of the skin lesion showed images similar to vulgaris pemphigus (PV), together with hyperacanthosis and papillomatosis. Aspects observed in immunofluorescence were identical to those of PV (case1). General corticoid therapy led to a rapid disappearance of lesions in Case 1 but in Case 2 the Lever protocol combining corticoid and methotrexate have been used. PH is rarely described in our regions. Clinical diagnosis is not obvious for the uninitiated. Beyond the clinical presentation, PH has the same paraclinical diagnosis and the same treatment as PV.

Effects of chimeric molecule of recombinant Dsg3EC_(1-2) with toxin PE40 on T and B lymphocytes in Pemphigus Vulgaris

Objective:To observe the effects of the recombinant chimeric toxin Dsg3EC 1-2PE40 on T and B lymphocytes isolated from Pemphigus Vulgaris (PV) patients to further study its biological therapeutic function for PV. Methods:Recombinant chimeric toxin Dsg3EC 1-2PE40 was first identified, expressed and purified, and then its effects on T and B lymphocytes of PV patients in vitro were detected and quantified by ELISPOT assay and MTT assay.Results:The purity of the expressed protein Dsg3EC 1-2PE40 was up to 80%. In ELISPOT assay, with Dsg3EC 1-2PE40, the overall number of B cells that produce anti-Dsg3 antibodies among PV patients was only about 60% of the comparable number with Dsg3EC 1-2. The proliferation of T cells of PV patients was inhibited markedly by Dsg3EC 1-2PE40. There was significant difference between the different groups with Dsg3EC 1-2PE40 and Dsg3EC 1-2.Conclusion:The recombinant chimeric toxin Dsg3EC 1-2PE40 decrease the number of B cells that produce anti-Dsg3 antibodies in PV patients and can inhibit or kill T cells of PV patients in vitro.

ASSOCIATION BETWEEN PEMPHIGUS VULGARIS AND HUMAN LEUKOCYTE ANTIGEN IN HAN NATION OF NORTHEAST CHINA

Objective To investigate the relationship between pemphigus vulgaris (PV) and human leukocyte antigen (HLA) in Han nation of northeast China. Methods Standard microcytotoxicity test and polymerase chain reaction-sequence specific primers method were used to detect the HLA classⅠ antigens and HLA-DRB1 and DQB1 alleles in 27 patients with PV and results were compared with control group. Results Gene and phenotype frequencies of HLA-A3, A26(10), B60(40), and B13 (27.99%, 48%; 16.11%, 30%; 23.02%, 41%; 16.11%, 30%, respectively) increased significantly in PV group compared with control (1.01%, 2%; 0.5%, 1%; 4.61%, 9%; 5.13%, 10%, respectively). After P value correction, the difference of A3, A26 (10), and B60 (40) between the two groups was still significant. The gene frequencies of HLA-DRB1*140x (1401, 1404, 1405, 1407, 1408), DRB1*120x, and DQB1*0503 alleles in PV group (42.26%, 25.46%, and 23.02%) were significantly higher than control group (5.09%, 7.74%, and 1.89%). After P value correction, the difference was still significant between the two groups. Conclusion PV significantly relates with HLA in PV patients of Han nation of northeast China.

Cutaneous Myiasis in a Neglected Case of Pemphigus Vulgaris:A Case Report

Introduction:Myiasis is an infestation of the tissues and organs of living vertebrates and humans by fly larvae,usually those belonging to the Calliphoridae family.The larvae feed on the host’s necrotic or living tissue.Case presentation:On mucocutaneous examination,the patient had multiple sinus tracts covered with purulent necrotic slough,and cylindrical maggots were crawling out of and around the areas of slough.The patient was diagnosed with wound myiasis caused byCochliomyia hominivorax.Turpentine oil flushes and oral ivermectin were prescribed.Discussion:Cutaneous myiasis can be papular,pustular,furuncular,and nodular.It is more common in people who have poor hygiene and intimate contact with domestic animals,such as people living in rural areas and tropical/subtropical countries.The chief aim of management is to remove the maggots as soon as possible,kill them to prevent maturation,promote wound healing,and prevent development of secondary complications.Conclusion:In the current case,the patient’s poor nursing and personal care and low socioeconomic condition predisposed her to secondary wound infection and maggot infestation.Such cases require prompt care to prevent secondary infection and septicemia.

Expression Changes of Serum IL-1α,CCL2,and CXCL2 in Patients With Pemphigus

Objective:This study was performed to explore the possible changes of the serum levels of the cytokines including interleukin 1α(IL-1α),chemokine monocyte chemotactic protein 1(also known as chemokine[C-C motif]ligand 2[CCL2]),and C-X-C motif chemokine ligand 2(CXCL2)in patients with pemphigus.Methods:The expression levels of IL-1α,CCL2,and CXCL2 in the serum of 57 patients with pemphigus PV(including 42 patients in progressive stage and 15 patients in remission stage)and 31 healthy controls were examined by enzyme-linked immunosorbent assay.The indepent-samples t-test was used to compare the two groups.Oneway analysis of variance was used for multiple-group comparisons,and the post-hoc least significant difference test was used to detect differences among multiple groups.Results:The serum expression levels of CCL2 and IL-1a were all significantly higher in the patients in progressive stage than in the controls([2.69±0.23]ng/mL vs.[2.55±0.28]ng/mL,P=0.043;[0.62±0.27]ng/mL vs.[0.48±0.23]ng/mL,P=0.038,respectively).In addition,the serum expression level of CXCL2 was significantly higher in patients in progressive stage than in in the remission stage([61.70±46.38]ng/mL vs.[24.97±18.46]ng/mL,P=0.037).Sex,disease classification,disease severity,treatment,and mucosal involvement had no significant influence on the expression of IL-1α,CCL2,or CXCL2 in the serum of patients groups and controls(all P>0.05).Conclusion:IL-1α,CCL2,and CXCL2 are heavily involved in the occurrence and development of pemphigus and may be related to the activity of the disease.

Molecular cloning and protein expression of EC1-2 and EC3-4 epitopes of pemphigus vulgaris antigen

To clone and express EC1 2 and EC3 4 epitopes of PVA (pemphigus vulgaris antigen, desmoglein 3) in order to diagnose pemphigus and study the relationship between epitopes of PVA and anti PVA antibody Methods RNA was extracted from keratinocytes and the cDNA of epitopes EC1 2 and EC3 4 was synthesized by reverse transcription Amplified genes of EC1 2 and EC3 4 were inserted into the expression plasmid, PGEX 4T 1, and transformed into E coli BL21 by electric transduction Recombinant fusion proteins of EC1 2 and EC3 4 epitopes were expressed by IPTG induction These proteins were separated on SDS PAGE gels and electroblotted to nitrocellulose to detect the anti PVA antibody Results The sequences of cloned EC1 2 and EC3 4 genes were identical to the sequence registered in PC/GENE Expressed recombinant proteins reacted only to sera from patients with pemphigus vulgaris, not to sera from patients with bullous pemphigoid, systemic lupus erythematosus or normal persons Conclusions These recombinant proteins are very specific in antigenicity This may provide a new method for the diagnosis of pemphigus vulgaris (PV) or the differential diagnosis of other bullous cutaneous diseases via patient sera It is also helpful in understanding the relationship between adhesion molecules and the pathogenic mechanism of pemphigus vulgaris

寻常性银屑病合并自身免疫性大疱性皮肤病13例临床分析

目的:分析寻常性银屑病合并自身免疫性大疱性皮肤病患者的临床特点、诊断及治疗。方法:回顾性分析2008—2021年西京医院皮肤科确诊寻常性银屑病合并自身免疫性大疱性皮肤病住院患者的临床资料。结果:收集13例寻常性银屑病合并自身免疫性大疱性皮肤病患者,其中男8例,女5例,平均年龄(44.69±8.02)岁。所有患者于银屑病发生后平均(14.85±7.54)年合并自身免疫性大疱性皮肤病。所有患者中7例合并天疱疮(其中1例伴有汞中毒),5例合并大疱性类天疱疮(1例确诊肺腺癌),1例合并成人型线状Ig A大疱性皮病。7例患者采用糖皮质激素和(或)免疫抑制剂治疗,6例予单用免疫抑制剂治疗。出院后随访2个月~13年,10例患者治愈或病情稳定,3例失访。结论:寻常性银屑病可合并多种自身免疫性大疱性皮肤病,临床较为少见。患者多为银屑病病程中出现水疱、大疱性皮损,明确诊断需结合皮损组织病理表现、免疫荧光、疱病自身抗体等检查结果综合判断。提示临床上需警惕合并汞中毒可能,并重视对肿瘤的筛查和随访,根据疱病严重程度制定合理的治疗方案。

中药联合利妥昔单抗治疗寻常型天疱疮1例

天疱疮是一种自身免疫性大疱性皮肤病,寻常型天疱疮是其中病情较重的类型,临床治疗困难。近年来,临床使用利妥昔单抗治疗寻常型天疱疮取得较好效果,但该药临床常出现感染等不良反应。此文案例患者因惧怕糖皮质激素和免疫抑制剂的不良反应,选用中药联合利妥昔单抗治疗寻常型天疱疮,取得了良好效果,同时改善了患者体质,降低了感染发生可能性。

Role of autoantibodies against the linker subdomains of envoplakin and periplakin in the pathogenesis of paraneoplastic pemphigus

Background The presence of autoantibodies against multiple epidermal proteins is an important feature in paraneoplastic pemphigus （PNP）. Circulating anti-desmoglein 3 autoantibody, the major pathogenic autoantibody in pemphigus vulgaris （PV）, has been proved pathogenic in PNP. Because of many clinical differences between PNP and PV, we speculate about the involvement of other autoantibodies in the pathogenesis of PNP. Envoplakin （EPL） and periplakin （PPL） are recognized by most PNP sera. Their linker subdomains are highly homologous and necessary for the association of intermediate filaments. Methods We characterized the autoantibodies against the linker subdomains of EPL and PPL in PNP patients＇ sera and their associated tumors by enzyme-linked immunosorbent assay （ELISA） and immunofluorence. We also applied the purified autoantibodies against EPL and PPL from PNP sera to cultured human epidermal keratinocytes （HEK）, to evaluate the changes of cell-cell adhesion. Results Autoantibodies against EPL and PPL were detected in most PNP patients by ELISA, and the decrease of these autoantibodies after removal of the tumors was roughly comparable to the improvement of clinical symptoms. Cultured tumor cells from PNP patients secreted these autoantibodies. Specific immunoglobulin receptors for EPL and PPL were found on B lymphocytes in tumors from PNP. Furthermore, purified anti-EPL and anti-PPL autoantibodies from PNP sera were capable of dissociating cultured human epidermal keratinocytes. Conclusion Autoantibodies against EPL and PPL may also be pathogenic in PNP.

Hallopeau type of pemphigus vegetans confined to the right foot： case report

In pemphigus vegetans, intertriginous areas are more commonly involved, and verrucous vegetations develop easily in these areas. In this article, we report a case of Hallopeau type of pemphigus vegetans confined to the right foot.

A Case Report on Paraneoplastic Pemphigus Associated Colonic Carcinoma

Paraneoplastic pemphigus mucocutaneous syndrome, has （PNP）, an acantholytic a universal association with malignancy and a poor prognosis, The clinical picture is characterized by painful mucosal erosions, ulcerations, and polymorphous skin lesions that progress to blistering eruptions on the trunk and extremities. In the reviews of all PNP, hematologic malignancies such as non-Hodgkin＇s lymphoma, chronic lymphocytic leukemia, and Castleman＇s disease account for the most part; nonhematologic malignancies are very seldom especially adenocarciuoma of colon, These will be illustrated in the following paper on the basis of a case report of a patient with colonic adenocarcinoma who presented with PNP.

天疱疮复发相关因素研究进展

天疱疮是一种危及生命的慢性自身免疫性疱病,糖皮质激素和免疫抑制剂是目前主要的治疗手段。目前随着利妥昔单抗的使用,天疱疮的缓解率明显提高,但在诸多因素影响下,复发仍然常见,且严重影响了患者的生命质量。本文就天疱疮复发相关因素的最新研究进行综述。

Chinese Expert Proposal on the Diagnosis and Management of Pemphigus Vulgaris (2020)

Pemphigus vulgaris(PV)is a life-threatening autoimmune bullous disease that causes blisters and erosions on the skin and mucous membranes to standardize the diagnosis and treatment of PV,Chinese experts in this field were invited to make recommendations which are presented in this article.Pemphigus vulgaris can be divided into cutaneous mucous type,cutaneous type and mucous mucous dominant type according to the different clinical manifestations.The pathological manifestations of PV are acantholysis above the basal layer.The diagnosis of PV and the assessment of the severity of the disease are made in accordance with the clinical manifestations,histopathological features,immunofluorescence assay results,and detection of pathogenic serum antibodies.The first-line treatment of PV comprises systemic glucocorticoids.Early combination with immunosuppressive agents or rituximab is recommended for moderate and severe PV.Intravenous immunoglobulin administration is recommended for patients being treated with rituximab.Plasma exchange and stem cell transplantation can be performed if necessary.During the course of therapy,the disease activity should be closely monitored,and actions should be taken to prevent adverse reactions.

一病一品高质量护理对天疱疮患者生活质量及护理满意度的影响

目的探讨一病一品高质量护理对天疱疮患者生活质量及护理满意度的影响。方法方便选取2022年3—12月遵义市第一人民医院收治的76例天疱疮患者为研究对象,按随机数表法分为两组,每组38例。对照组给予常规护理,观察组给予一病一品高质量护理。比较两组患者生活质量[简明生活质量量表(Short Form 36 Questionnaire,SF-36)]评分及护理满意度。结果干预后,观察组SF-36评分高于对照组,差异有统计学意义(P<0.05);观察组护理总满意度(94.74%)高于对照组(78.95%),差异有统计学意义(χ^(2)=4.145,P<0.05)。结论一病一品高质量护理应用于天疱疮患者中可取得显著效果,提高患者生活质量,且患者对该护理方式的认可度较高。