Bullous Disease Research Articles

Pulmonary Neurofibromatosis with Bilateral Bronchiectasis: A Rare Thoracic Manifestation

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant genetic disorder. The incidence of NF is 1 in 3000 individuals. Approximately one-half of the cases are familial, while the remaining occur sporadically due to germ cell mutations. The clinical manifestation of NF1 may include a café-au-lait macule usually 5–15 mm in diameter, multiple neurofibromas, axillary or inguinal freckling, optic glioma, Lisch nodules, and a distinctive bony lesion. Although very rare, pulmonary manifestation in neurofibromatosis can occur in the form of mediastinal neurofibromas, pleural neurofibromas, tracheobronchial neurofibroma, interstitial lung disease, bullous lung disease, and cystic lung disease. Here, we present a rare case of pulmonary neurofibroma with bronchiectasis.

Semilunar Sign of Trans-Mediastinal Herniation of Giant Bullae with Tension Hydropneumothrax

Herniation of bulla across mediastinum is rare, while transmediastinal giant bulla herniation accompanied with hydropneumothorax is even rarer. We report a case of an 18 years old male with dyspnea came to emergency department with trans-mediastinal giant bulla herniation, which appears as semilunar sign on chest x-ray, and righthydropneumothoraks. It appeared that the giant bulla also infected by the presence of air fluid level within. Semilunar sign was seen on the contralateral left mediastinum as the hallmark finding for trans-mediastinal herniation of bulla. Chest CT further confirms the diagnosis. Subsequently chest tube insertion and symptomatic relives were given, however the patient end up dead after 2 days of observation. Heart and lung compression by the lesions were the cause of this patient poor outcome. Bullous lung disease should be evaluated thoroughly and not underestimated since it could cause severe disease progression.

The association between pemphigus and pemphigoid with periodontitis: A systematic review and meta-analysis with trial sequential analysis

Aim: Ample evidence is available regarding the potential synergistic and bidirectional association between periodontal disease and systemic inflammatory diseases. However, the link between periodontal disease and autoimmune bullous diseases remains unclear in the literature. The present review aimed to investigate the association between periodontal disease and two major subgroups of autoimmune bullous diseases—pemphigus and pemphigoid. Materials and Methods: We performed a systematic review and meta-analysis on data extracted according to PRISMA. Relevant articles were selected from a literature search using MEDLINE, EMBASE, and CENTRAL from inception until December 7, 2020. Both randomized and non-randomized controlled studies were included. Non-systematic reviews and trials published as abstract, case series, and case reports were excluded. The meta-analysis was conducted with RevMan 5.3. Results: Three articles (199 subjects) were included for the analysis. Of the 199 participants, 99 patients with bullous disease were compared with 100 healthy controls. In comparison to the healthy cohort, the group with bullous disease had a statistically significant increase in clinical attachment loss (mean difference (MD) 0.82, 95% confidence interval (CI): 0.21–1.43, ρ=0.008, I2 = 92%) and probing depth (MD 0.79, 95% CI: 0.71–0.87, ρ<0.00001, I2 = 0%). No difference was demonstrated in the plaque index (MD 20.57, 95% CI: ‒3.35–44.5, ρ= 0.09, I2 = 98%) and gingival index (MD 6.87, 95% CI: ‒6.15–19.89, ρ=0.3, I2 = 98%) for both bullous and healthy groups. Conclusion: Both autoimmune bullous diseases, pemphigus and pemphigoid, are significantly associated with periodontal disease. However, the findings need to be interpreted cautiously as there is significant heterogeneity. Additional prospective studies are required to strengthen the evidence.

Bullous pemphigoid autoantibodies

&lt;abstract&gt; &lt;p&gt;Autoimmune blistering skin disorders are rare. According to direct immunofluorescence studies, three categories are described: pemphigus group, pemphigoid group and dermatitis herpetiformis. Among these diseases, bullous pemphigoid is the most common. Patients with typical bullous pemphigoid disease are usually elderly and have many comorbidities. Considering that topical and systemic corticosteroids are the first choice therapy, these patients also have increased morbidity and risk of death. The main characteristic of bullous pemphigoid as an acquired autoimmune blistering disease is the formation of autoantibodies against hemidesmosomal antigens BP180 and BP230. Although IgG autoantibodies predominate within the plasma and skin of BP patients, some features of the disease cannot be explained solely by IgG-mediated mechanisms. Epitope spreading phenomena, immunoglobulin class switch and the relevance of IgM and IgE autoantibodies are discussed in this article.&lt;/p&gt; &lt;/abstract&gt;

Intravenous Iron Sucrose Induced Bullous Pemphigoid

Pemphigus is an autoimmune bullous disease that may be influenced by multitude of genetic and exogenous factors. Drug induced pemphigus also holds a center stage. With culprit molecule varying from penicillamine to various thiol associated drugs, management mainly revolves around proper history elicitation and prompt withdrawal of suspected drug. The present case describes a rare presentation of intravenous iron sucrose induced bullous pemphigoid.

Dermatitis Herpetiformis: an Autoimmune Bullous Disease

Dermatitis herpetiformis (DH) is an autoimmune bullous disease characterized by intensely pruritic, chronic, and recurrent vesicles on extensor surfaces such as the elbows, knees, and buttocks. The assortment of neutrophils at the papillary tips is the commonplace histopathological finding, and a trademark analytic element is granular immunoglobulin A statement in the papillary dermis by direct immunofluorescence. DH is firmly connected with gluten touchy enteropathy and is viewed as a cutaneous indication of gluten affectability; i.e., an extra-intestinal show of celiac illness. Gluten free eating routine is the primary line treatment for patients with DH and dispone is likewise compelling. DH specially influences Caucasians who convey human leukocyte antigen (HLA)- DQ2 or HLA-DQ8. The major autoantigen is epidermal transglutaminase. This survey centers around the affirmed highlights of DH and our new discoveries explicit to DH in Japanese patients.

Efficacy of Rituximab in Patients with Autoimmune Bullous Disease: A Retrospective Cohort Study

Efficacy of Rituximab in Patients with Autoimmune Bullous Disease: A Retrospective Cohort Study

Characteristics and outcomes of COVID-19 in patients with autoimmune bullous diseases: A retrospective cohort study

Characteristics and outcomes of COVID-19 in patients with autoimmune bullous diseases: A retrospective cohort study

RETRACTED: Multi Core Real-Time System Design for Hospital and Cyclosporine in The Treatment of Pathological Diagnosis of Pemphigus Patients

Treatment of pemphigus vulgaris is to control symptoms, prevent recurrence, and avoid adverse events associated with long-term use of steroids and immunosuppressant's. Systemic hormones are still the gold standard for the treatment of pemphigus vulgaris. Cyclosporine is a cyclic oligopeptide that can be found in activated T cells and exhibits a powerful immunosuppressive property ability by blocking the transcription of cytokine genes. Cyclosporine is increasingly used in the treatment of autoimmune and allergic skin diseases, with an inhibitory effect on 0-1 activation by immune cells. Pemphigus vulgaris is a serious autoimmune disease, bullous disease. Systemic application of hormones and immune suppressive therapies is the mainstay. After the introduction of glucocorticoid therapy, the mortality rate of pemphigus patients has been from 92% to 36%. Pemphigus vulgaris (PV) is a life-threatening disease that belongs to the group of pemphigus. It is an immune epidermal bullous disease of the skin and mucous membranes. Treatment management of PV is still challenging, and in some cases conventional treatments are not sufficient to induce clinical remission. The cornerstone of PV therapy is still systemic steroids. Although highly effective, long-term corticosteroids are characterized by overt side effects.

17919 Sexual quality of life in patients with autoimmune bullous disease

Background: Sexual quality of life (SQOL) is an important component of health and has been evaluated for other dermatologic diseases, but never for autoimmune bullous disease (AIBD), a group of conditions characterized by sudden onset of open erosions and sores in the skin and mucosa, including the genitalia, which can negatively affect functional capabilities, self-esteem and image.

18191 Experience of using rituximab and corticosteroid combination therapy for bullous pemphigoid: A 9-year case series analysis

Background: Bullous pemphigoid is the most common autoimmune bullous disease, with a mortality rate up to 13∼38% due to increased susceptibility in the aging population, high prevalence of comorbidities, and the use of immunosuppressants. In the recent years, a few case series, including one precedent case series from our facility, have demonstrated an increased rate of complete remission, steroid-sparing effect and a favorable safety profile of rituximab as a treatment for bullous pemphigoid.

17213 Oral and skin ulceration in a patient with Alzheimer disease

Case Description: Case of a 76-year-old woman with history of hypertension, atrial fibrillation, arthritis of unknown origin, and Alzheimer disease who was evaluated for a 2-month history of painful oral mucosa erosions with hemorrhagic crusting accompanied with dysphagia. Lesions were treated unsuccessfully with oral antibiotics. Given no clinical improvement a bullous disease was suspected, and patient was started on prednisone. Laboratory results consisted of pancytopenia, hypoalbuminemia, and acute kidney injury. Tissue cultures were negative for bacteria, fungus, and atypical mycobacteria. Skin biopsy on the right lower abdomen showed ulceration with epidermal dysmaturation and dyskeratosis. Upon further questioning patient reported taking MTX 10 mg daily instead of weekly for her underlying arthritis. MTX was stopped and folic acid replacement was administered with resolution of pancytopenia and mucocutaneous lesions.

Case Report: Semilunar Sign of Trans-Mediastinal Herniation of Giant Bullae with Tension Hydropneumothrax

Herniation of bulla across mediastinum is rare, while transmediastinal giant bulla herniation accompanied with hydropneumothorax is even rarer. We report a case of an 18 years old male with dyspnea came to emergency department with trans-mediastinal giant bulla herniation, which appears as semilunar sign on chest x-ray, and right hydropneumothoraks. It appeared that the giant bulla also infected by the presence of air fluid level within. Semilunar sign was seen on the contralateral left mediastinum as the hallmark finding for trans-mediastinal herniation of bulla. Chest CT further confirms the diagnosis. Subsequently chest tube insertion and symptomatic relives were given, however the patient end up dead after 2 days of observation. Heart and lung compression by the lesions were the cause of this patient poor outcome. Bullous lung disease should be evaluated thoroughly and not underestimated since it could cause severe disease progression.

Nonintubated Uniportal Video-Assisted Thoracoscopic Surgery for Intrathoracic Diseases: Initial Results in Vietnam.

Nonintubated uniportal video-assisted thoracoscopic surgery (VATS) is a recent controversial procedure in many countries. Hence, the authors would like to present the experience in performing this approach and evaluate its initial results in the treatment, particularly, of intrathoracic diseases in Vietnam. A prospective, descriptive study was conducted on 17 patients with intrathoracic diseases treated with nonintubated uniportal VATS from February to July 2019. Preoperative, intraoperative, and postoperative parameters were gathered and analyzed by SPSS Statistics, Version 18.0. Patients had an average age of 49.2 ± 20.5 (range 6 to 71) years. Regarding operative indications and methods, there were 3 ground glass opacity (17.6%) and 1 bullous lung disease receiving wedge resection (5.9%); 8 mediastinal tumors (47.1%) having resection, and 5 non-small-cell lung cancers receiving lobectomy combined with node dissection (29.4%). The average operative time and pleural drainage time were 108.6 ± 28.17 min (range 60 to 160) and 3.7 ± 1.18 days (range 2 to 8), respectively. The average hospitalization time was 4.9 ± 1.76 (range 3 to 12) days. No mortalities or major complications were recorded postoperatively. Nonintubated uniportal VATS is a safe and considerable surgical choice for appropriate intrathoracic conditions.

Estimated cut-off values for pemphigus severity classification according to pemphigus disease area index (PDAI), autoimmune bullous skin disorder intensity score (ABSIS), and anti-desmoglein 1 autoantibodies

BackgroundPemphigus is a potentially fatal disease if left untreated. Valid scoring systems and defined cut-off values for classification of patients would help with better management through specified pharmaceutical and non-pharmaceutical treatments.MethodsIn this study, pemphigus patients who were receiving immunosuppressive treatments and had recent disease relapse were recruited for examination of pemphigus disease area index(PDAI), autoimmune bullous skin disorder intensity score (ABSIS), physician global assessment (PGA), autoimmune bullous disease quality of life (ABQoL), anti-desmoglein 1 (anti-Dsg1), and anti-Dsg3 autoantibody titers from December-2017 to February-2018. Cut-off values were estimated using model-based clustering classification and the 25th and 75th percentiles approach, performed separately for the exclusive cutaneous, exclusive mucosal, and mucocutaneous groups.ResultsIn the 109 included patients, the 25th and 75th percentiles cut-offs were 6.2 and 27 for PDAI score, and 4 and 29.5 for ABSIS score. The model-based analysis resulted in two groups (cut-point:15) for PDAI score, and three groups (cut-points:6.4 and 31.5) for ABSIS score. The groups were significantly different for the PDAI, ABSIS, PGA, and ABQoL values. Based on anti-Dsg1 autoantibody values, the model-based analysis cut-point was 128 and the 25th and 75th percentiles cut-offs were 98 and 182. Anti-Dsg3 autoantibody values did not differentiate between pemphigus severity classes.ConclusionsEstimated cut-off values based on the anti-Dsg1 level, PDAI, and ABSIS scoring systems could be used to classify patients into different severity grades for better management and prognosis.

Indication, Clinical Profile and Management of Bullous Disease of Lung during COVID Pandemic

Indication, Clinical Profile and Management of Bullous Disease of Lung during COVID Pandemic

Distinct compartmentalization of immune cells and mediators characterizes bullous pemphigoid disease.

Bullous pemphigoid (BP) is an autoimmune blistering disease characterized by recruitment of leucocytes into skin and release of damaging enzymes, resulting in epidermal detachment and blister formation. To better understand the role of leukotriene B4 (LTB4) and other inflammatory factors in BP pathophysiology, we conducted microscopic and immunohistochemical analyses of preserved skin biopsy sections and conducted flow cytometry and ELISA analyses of matched blood and blister fluid from BP patients. Neutrophils predominated in BP blister fluid, which also contained monocytes/macrophages and T cells, but few to no eosinophils and B cells. In contrast, BP skin histology showed a different pattern, with abundant neutrophils but eosinophils being the predominant immune cell type. LTB4 pathway and neutrophil activation markers were prevalent in BP skin lesions and strongly associated with perivascular neutrophils. Blister fluid neutrophils, monocytes/macrophages and eosinophils all exhibited increased surface expression of leukotriene A4 hydrolase and neutrophil elastase (P=.002 for both). Blister fluid was also enriched in interleukins (IL)-1α, IL-1β, IL-8, IL-10, IL-18, monocyte colony-stimulating factor (M-CSF) and vascular endothelial growth factor (VEGF). Our findings suggest differential leucocyte recruitment from blood into dermis and from dermis into blister, which correlates with disease activity, and presents potential new treatment opportunities for BP.

Multicystic Alveolar Adenoma in a Symptomatic Adult with Extensive Bullae and Mediastinal Shift

We present a unique case of alveolar adenoma with extensive bullous disease in a young female patient that presented as left sided pleuritic chest pain and shortness of breath. The patient had a pneumothorax and mediastinal shift. She underwent upper lobectomy that resulted in relative a resolution of the mediastinal shift. We discuss the unique clinical and pathologic presentation of this rare benign neoplasm in this patient.

Functional inhibition of regulatory CD4+CD25+T cells in peripheral blood of patients with pemphigus vulgaris.

Pemphigus vulgaris (PV) is a potentially life-threatening autoimmune bullous disease affecting the skin and mucous membranes. Its pathogenic mechanism is still not fully understood. Regulatory T cells (Tregs) have been reported to play a significant role in regulating immune homeostasis in autoimmune disorders, such as PV. To investigate the potential role of Tregs in the immunopathogenesis of PV. We enrolled 15 patients with PV and 15 healthy controls (HCs). Peripheral blood samples were collected from all participants before treatment. This was followed by flow cytometric, real-time reverse transcription PCR, and in vitro inhibition-based functional assays to explore the immunopathogenesis of Tregs in PV. Our results showed no statistically significant differences in total CD4+CD25+ cells and CD4+CD25high cells. In addition, expression levels of FOXP3 mRNA and the corresponding FOXP3 protein remained unchanged in the patients with PV and the HCs. However, the in vitro suppressive activity of CD4+CD25+ T cells was impaired in patients with PV compared with HCs. Our observations suggest that inhibition of suppressive activity of Treg cells may be involved in the pathogenesis of PV.

Thalidomide as a potential adjuvant treatment for paraneoplastic pemphigus: A single-center experience.

Paraneoplastic pemphigus (PNP) is a rare autoimmune bullous disease associated with an underlying malignancy. The survival rate at 5 years is reported to be as low as 38%. Thalidomide is a medication with strong anti‐inflammatory, immunomodulatory, antiangiogenic, and sedative properties. Recently, the successful application of thalidomide in several dermatological and hematological disorders inspired us to investigate its potential as an adjuvant treatment for PNP. Here, we report our experience of trial thalidomide therapy in 14 PNP patients. After treatment of their associated tumors, the patients were administered thalidomide (75‐100 mg/d) combined with or without low‐ to mid‐dose oral prednisone. Twelve patients completed the therapy. Seven patients (58%) achieved complete remission with no relapse, including two patients who received thalidomide monotherapy. Five patients (42%) died within 1 to 3 months. The 1‐year and 2‐year survival rates in our case series were 58% and 55%, respectively. The regimen was well tolerated. Although the treatment experience presented has a limited sample size and no control, our results imply that thalidomide may be an effective, safe, and economical treatment option for PNP patients. Further research is needed to better understand the mechanisms of action of thalidomide in PNP.