A Case Report of Paraneoplastic Pemphigus Associated With Retroperitoneal Inflammatory Myofibroblastic Tumor

Paraneoplastic pemphigus (PNP) is an autoimmune bullous disease associated with underlying neoplasms, both malignant and benign. The most constant clinical presentation of PNP is the presence of intractable stomatitis. Herein we present a 25-year-old male with a 3-month history of refractory stomatitis especially involving the lips and widespread vesiculobullous eruption on his trunk and extremities. The diagnosis of PNP was confirmed based on histological and serological results. Investigation for the underlying neoplasm revealed a retroperitoneal tumorous mass which was biopsied and diagnosed as the inflammatory myofibroblastic tumor (IMT). The tumor was surgically excised, and different treatment regimens were used to treat the mucocutaneous lesions. Skin lesions responded favorably to treatment, but oral stomatitis still persists which is the case in most PNP patients. This combination of PNP and IMT has rarely been reported in the literature. Treatment started with corticosteroid and rituximab then tumor excised

Clinicoepidemiological Features of 82 Cases of Bullous Pemphigoid in Tehran, Iran

Bullous Pemphigoid is a chronic immunobullous disease, characterized by subepidermal bulla on the skin and mucosa. The purpose of the present study was to investigate the clinicoepidemiological features of bullous pemphigoid in Iranian patients. In this retrospective descriptive study, we reviewed 82 bullous pemphigoid patients within 2014-2016. The mean age of the patients was 67.13 years (range between 25 and 97) including 32(39.1%) males and 50(60.9%) females. Mucosal involvement was positive in 33(40.2%) of the patients, and oral mucosa was most commonly involved. Head and neck area were involved in 43 (52.4%) of the patients. Clinical and epidemiological characteristics of bullous pemphigoid are different in different regions of the world

Rituximab therapy improves recalcitrant Pemphigus vulgaris

Pemphigus is a severe life-threatening blistering disease associated with autoantibodies against cell adhesion proteins desmogleins 1 and 3. Patients with severe pemphigus commonly show high rates of relapse after conventional immunosuppressive therapy. The newly developed drug Rituximab showed impressing promises in the treatment of refractory pemphigus vulgaris (PV). In the present study the efficacy of a single course rituximab therapy in the treatment of PV was investigated. Eighteen patients with severe recalcitrant PV were recruited to this study. Pemphigus disease activity index (PDAI), anti-desmoglein 1 and anti-desmoglein 3 antibody titers, and percent of CD20 positive cells were measured at baseline, 10 ± 1, and 22 ± 2 weeks after rituximab therapy. Rituximab was given intravenously at dose 375 mg/m2 once weekly for 4 weeks. Rituximab therapy caused a dramatic reduction in the PDAI, accompanied by decreases in anti-desmoglein 1 and anti-desmoglein 3 antibody titers over the follow-up course. The B-cell population decreased at the first follow-up, but returned to its baseline levels at the second follow-up. Rituximab therapy decreased the dose of immunosuppressive drugs required to control the disease. It seems that the rituximab may be effective and safe for treatment of refractory PV

Exacerbation of Autoimmune Bullous Diseases After Severe Acute Respiratory Syndrome Coronavirus 2 Vaccination: Is There Any Association?

Background and AimThere have been concerns regarding the potential exacerbation of autoimmune bullous diseases (AIBDs) following vaccination against COVID-19 during the pandemic. In the current study, vaccine safety was evaluated in patients with AIBDs.MethodsIn this study, patients with AIBDs were contacted via face-to-face visits or phone calls. Patient demographics, vaccine-related information, pre- and post-vaccine disease status, and complications were recorded. The exacerbation was considered either relapse in the remission/controlled phase of the disease or disease worsening in the active phase. The univariate and multivariate logistic regression tests were employed to determine the potential risk factors of disease exacerbation.ResultsOf the patients contacted, 446 (74.3%) reported receiving at least one dose of vaccine injection (54.7% female). Post-vaccine exacerbation occurred in 66 (14.8%) patients. Besides, there were 5 (1.1%) patients with AIBD diagnosis after vaccination. According to the analysis, for every three patients who received vaccines during the active phase of the disease one experienced disease exacerbation. The rate of disease exacerbation increased by three percent with every passing month from the last rituximab infusion. Active disease in the past year was another risk factor with a number needed to harm of 10.ConclusionRisk of AIBD exacerbation after the COVID-19 vaccine is not high enough to prevent vaccination. This unwanted side effect, can be reduced if the disease is controlled at the time of vaccination

Hailey-Hailey Disease: Case Series and Review of Systemic Medications

Introduction: Hailey-Hailey disease (HHD) is a rare inherited blistering skin disorder characterized by a chronic relapsing course. While it doesn't pose a serious threat to the patient's health, the quality of life can change. Unfortunately, there is currently no standard treatment for this condition. Objective: In this observational retrospective cohort study, our aim was to discover the demographic characteristics and treatment strategies for managing Hailey-Hailey disease. Methods: In this retrospective cohort study, we documented the demographic, clinical, and histopathological characteristics beside various treatment employed options of patients diagnosed with HHD at Razi Hospital over the past 14 years. Results: A total of 32 patients with HHD were enrolled in the study (15 male and 17 female). The mean age of patients was 50.41 ± 13.15 (22-77) years. The average age of disease onset was 37.31 ± 11.88 (15-60) years. Among the participants, 16 individuals (50%) affirm a positive family history of some kind of pemphigoid blisters. The most common site of disease activity was the inguinal area, observed in 14 patients (33.33%). Histopathological examination discovered the existence of suprabasal acantholysis in all of the specimens. Worthily, direct immunofluorescence analysis showed negative results in all skin biopsies. All patients received topical steroids and either topical or systemic antimicrobial agents. In cases of flares, systemic steroids were the most popular and favorable treatment choice during flares. Conclusion: Indeed, Hailey-Hailey disease, characterized by its chronic inflammatory and rare nature with a relapsing and remitting course, poses a significant challenge for dermatologists. The treatment of HHD has been less than satisfactory and it often presents a challenge and could be misdiagnosed. Among the available treatment options, topical steroids and antimicrobial agents are the most commonly administered therapies

Prevalence of Multiple Sclerosis in Vitiligo Patients and Their First-Degree Relatives: Two Diseases with Similarities in Pathogenesis and Treatment

Introduction: Vitiligo is a common pigmentation disorder manifested by white macules and patches. It is accompanied by some autoimmune and neurological diseases. Recently, it has been suggested that multiple sclerosis (MS) is more common in vitiligo patients and that they have a higher risk of developing MS during their lifetime. Objectives: In this study, we aimed to determine the prevalence of MS in patients with vitiligo and their first-degree relatives and compare it with the prevalence in the population. Methods: In this cross-sectional study, data were consecutively collected from patients referred to Razi Hospital from March 2020 to December 2021. Results: 709 patients with vitiligo participated in this study, and 15 reported a history of MS (2.12%, 95% CI: 1.06-3.17%). This rate was significantly higher than the prevalence of MS in the average population of Tehran (p < 0.001). Of the 2886 first-degree relatives of the patients, 10 had MS (0.35%, 95% CI: 0.13-0.56%), which was higher than the prevalence of MS, yet not statistically significant. Conclusions: A significant association between vitiligo and MS was observed, which should be of clinical and therapeutic importance. However, the prevalence of MS in first-degree relatives of vitiligo patients was higher than the average rate, yet not statistically significant

Serologic Biomarkers in Pemphigus Monitoring: C-reactive Protein, Macrophage Migration Inhibitory Factor, and Prolactin Levels Versus Autoantibody Assays

Evaluation and monitoring of pemphigus vulgaris (PV) typically involve autoantibody detection by enzyme-linked immunosorbent assay (ELISA) and indirect immunofluorescence (IIF). We aimed to determine the levels of antipemphigus immunoglobulin (Ig) G autoantibodies using ELISA and IIF (as standard biomarkers), and compare it to prolactin, macrophage migration inhibitory factor (MIF), and C-reactive protein (CRP) (as nonstandard biomarkers) to determine which of these non-standard biomarkers is appropriate for PV monitoring. The experiment was performed before and during therapy. Anti-Dsg immunoglobulin G autoantibodies were measured using ELISA and IIF (as standard biomarkers) versus prolactin, MIF, and CRP (nonstandard), before 1 and 3 months after the treatment. Before beginning the treatment, the severity of the disease was determined using the pemphigus disease area Index (PDAI). We enrolled 60 newly diagnosed patients with PV (32 men and 28 women; mean age=43.8±14.2 years). Before treatment, the levels of anti-Dsg1, anti-Dsg3, and IIF were high and had a significant relationship with PDAI. PDAI also had a connection with the levels of CRP and prolactin. The anti-Dsg1, anti-Dsg3, IIF, and CRP titers decreased in patients treated with conventional (prednisolone plus azathioprine) and rituximab therapy during and after treatment. In conclusion, anti-Dsg1, anti-Dsg3, and IIF autoantibody titers remain standard biomarkers for assessing disease activity, severity, and PV monitoring. The trend of CRP was similar to that of anti-Dsg1, anti-Dsg3, and IIF. Thus, CRP may be used for PV monitoring

Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing

Familial clustering of classic Kaposi sarcoma (CKS) is rare with, approximately 100 families reported to date. We studied 2 consanguineous families, 1 Iranian and 1 Israeli, with multiple cases of adult CKS and without overt underlying immunodeficiency. We performed genome-wide linkage analysis and whole-genome sequencing to discover the putative genetic cause for predisposition. A 9-kb homozygous intronic deletion in RP11-259O2.1 in the Iranian family and 2 homozygous variants, 1 in SCUBE2 and the other in CDHR5, in the Israeli family were identified as possible candidates. The presented variants provide a robust starting point for validation in independent samples.Peer reviewe