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Frontiers in Immunology 2024Autoimmune blistering disorders (AIBDs) are a heterogeneous group of approximately a dozen entities comprising pemphigus and pemphigoid disorders and dermatitis... (Review)
Review
Autoimmune blistering disorders (AIBDs) are a heterogeneous group of approximately a dozen entities comprising pemphigus and pemphigoid disorders and dermatitis herpetiformis. The exact diagnosis of AIBDs is critical for both prognosis and treatment and is based on the clinical appearance combined with the detection of tissue-bound and circulating autoantibodies. While blisters and erosions on the skin and/or inspectable mucosal surfaces are typical, lesions may be highly variable with erythematous, urticarial, prurigo-like, or eczematous manifestations. While direct immunofluorescence microscopy (IFM) of a perilesional biopsy is still the diagnostic gold standard, the molecular identification of the major target antigens opened novel therapeutic avenues. At present, most AIBDs can be diagnosed by the detection of autoantigen-specific serum antibodies by enzyme-linked immunosorbent assay (ELISA) or indirect IFM when the clinical picture is known. This is achieved by easily available and highly specific and sensitive assays employing recombinant immunodominant fragments of the major target antigens, i.e., desmoglein 1 (for pemphigus foliaceus), desmoglein 3 (for pemphigus vulgaris), envoplakin (for paraneoplastic pemphigus), BP180/type XVII collagen (for bullous pemphigoid, pemphigoid gestationis, and mucous membrane pemphigoid), laminin 332 (for mucous membrane pemphigoid), laminin β4 (for anti-p200 pemphigoid), type VII collagen (for epidermolysis bullosa acquisita and mucous membrane pemphigoid), and transglutaminase 3 (for dermatitis herpetiformis). Indirect IFM on tissue substrates and in-house ELISA and immunoblot tests are required to detect autoantibodies in some AIBD patients including those with linear IgA disease. Here, a straightforward modern approach to diagnosing AIBDs is presented including diagnostic criteria according to national and international guidelines supplemented by long-term in-house expertise.
Topics: Humans; Autoantibodies; Autoimmune Diseases; Autoantigens; Skin Diseases, Vesiculobullous; Enzyme-Linked Immunosorbent Assay
PubMed: 38903493
DOI: 10.3389/fimmu.2024.1363032 -
Indian Journal of Dermatology,... May 2024
PubMed: 38899422
DOI: 10.25259/IJDVL_615_2024 -
Anais Brasileiros de Dermatologia Jun 2024
PubMed: 38880671
DOI: 10.1016/j.abd.2023.07.019 -
Acta Dermato-venereologica Jun 2024The MDHHgermany registry was initiated to characterize the "real-life" situation of affected individuals with Darier's disease (DD; Morbus Darier, MD) and Hailey-Hailey...
The MDHHgermany registry was initiated to characterize the "real-life" situation of affected individuals with Darier's disease (DD; Morbus Darier, MD) and Hailey-Hailey disease (HH), including their treatment and healthcare. To gain deeper insights into medical care of patients with DD, various aspects such as demographics, subjective symptoms, patient satisfaction with medical care, past and current therapies were explored. Patients with diagnosed DD were included. Subjective symptoms such as itch, pain and burning sensation were assessed. Individual therapy goals were recorded and patients assessed previous/current therapies along with satisfaction of medical care and treatment. A total of 55 patients were recruited; 47 patients were eligible for the analysis. Pruritus was rated the most bothersome symptom. Some 42.6% had not received systemic treatment so far or systemic therapies were rated ineffective (32.6%). Most commonly oral retinoids were prescribed, followed by corticosteroids. Patient satisfaction with medical care and treatment proved to be mediocre. This "real-life" data show an alarming unmet need regarding patients' satisfaction with medical care and treatment, evidenced by the reported lack of disease control. Further studies and interventions are needed to improve the spectrum of available therapies. MDHHgermany provides a foundational platform for future clinical trials, epidemiological studies, and pathophysiological analyses.
Topics: Humans; Registries; Darier Disease; Male; Female; Germany; Patient Satisfaction; Middle Aged; Aged; Adult; Treatment Outcome; Health Services Needs and Demand; Pemphigus, Benign Familial; Pruritus; Needs Assessment; Adrenal Cortex Hormones; Retinoids
PubMed: 38860622
DOI: 10.2340/actadv.v104.19663 -
Anais Brasileiros de Dermatologia Jun 2024Anti-desmoglein (Dsg)1 is produced in pemphigus foliaceus (PF), affecting exclusively the skin. Pemphigus vulgaris (PV) shows the production of anti-Dsg3 in the mucosal...
BACKGROUND
Anti-desmoglein (Dsg)1 is produced in pemphigus foliaceus (PF), affecting exclusively the skin. Pemphigus vulgaris (PV) shows the production of anti-Dsg3 in the mucosal form, and anti-Dsg1 and 3 in the mucocutaneous form. Anti-Dsg3 autoantibodies have been rarely reported in PF.
OBJECTIVES
To determine the factors associated with the production and pathogenicity of anti-Dsg3 in PF.
METHODS
Comparative analytical study of three patients groups: 16 PF-anti-Dsg3+, and 42 PF-anti-Dsg3(-) and 22 PV treatment-naïve cases. Serum was used in the anti-Dsg1 and 3 ELISA, and in immunoblotting (IB) with human epidermis extract. The expression of Dsg1 and 3 in paraffin sections was analyzed by immunohistochemistry (IHC). HLA-DRB1 alleles were compiled from a database.
RESULTS
In the PF-anti-Dsg3+ group: age range similar to that of the PV group (p > 0.9999); predominance of the generalized form of PF (p = 0.002); anti-Dsg3 titers lower than those of PV (p < 0.0001); IB confirmed Dsg3 identification in one (8.33%) of 12 patients; IHC showed exclusive cytoplasmic internalization of Dsg1; HLA-DRB1 alleles of susceptibility to PF, with the absence of alleles associated with PV, in the five typed patients.
STUDY LIMITATIONS
Most of the patients in the PF-anti-Dsg3+ group were undergoing treatment.
CONCLUSION
The presence of anti-Dsg3 antibodies in PF was related to older age (comparable to that of PV) and the generalized form of PF. The non-pathogenicity of anti-Dsg3 antibodies in PF can be attributed to the low serum anti-Dsg3 titers, the lack of Dsg3 internalization as detected by IHC, and the absence of PV-associated HLA-DRB1 alleles.
PubMed: 38851894
DOI: 10.1016/j.abd.2023.11.006 -
The Journal of Investigative Dermatology Jun 2024
PubMed: 38848987
DOI: 10.1016/j.jid.2024.03.044 -
Indian Dermatology Online Journal 2024
PubMed: 38845638
DOI: 10.4103/idoj.idoj_351_23 -
Indian Dermatology Online Journal 2024Rituximab infusion and dexamethasone-cyclophosphamide pulse (DCP) are the two most popular regimens used in pemphigus vulgaris (PV) in India.
Comparison of the Clinical Efficacy of Rituximab Infusion and Dexamethasone-Cyclophosphamide Pulse Therapy and Their Effect on Serum Th1, Th2, and Th17 Cytokines in Pemphigus Vulgaris-A Prospective, Nonrandomized, Comparative Pilot Study.
BACKGROUND
Rituximab infusion and dexamethasone-cyclophosphamide pulse (DCP) are the two most popular regimens used in pemphigus vulgaris (PV) in India.
OBJECTIVE
The present study compared the clinical efficacy of rituximab and DCP in Indian PV patients and their effects on serum Th1,2, and 17 cytokine levels.
MATERIALS AND METHODS
A total of 37 patients received DCP (Group A, = 22) or rituximab (Group B, rheumatoid arthritis protocol ( = 15)) as per patients' preference. They were monitored for clinical response, adverse events (AEs), changes in serum anti-desmoglein-1,3 antibody titers and Th1,2 and 17 cytokine levels at baseline and weeks 20 and 52.
RESULTS
The proportion of patients attaining disease control, remission, and relapse in groups A and B were 82% and 93%; 73% and 93%; and 27% and 50%, respectively, after a median duration of 2 months each for disease control; 4 and 4.5 months for remission; and 5 and 7 months for relapse post remission. The musculoskeletal AEs were the highest in the two groups. Significant and comparable decreases in anti-dsg1 and 3 titers from baseline to weeks 20 and 52 were observed in both groups. Th1 and Th17 cytokine levels decreased, while Th2 cytokines increased post-treatment in both groups. However, no correlation was found between change in body surface area of involvement by PV and anti-dsg titers and cytokine levels before and after therapy in both groups.
CONCLUSION
Comparable clinical efficacy between DCP and rituximab was observed.
PubMed: 38845632
DOI: 10.4103/idoj.idoj_558_23 -
Indian Journal of Dermatology,... Apr 2024Background Owing to the lack of standardised audio-visual (A-V) instructions to take photographs, patients with pemphigus faced difficulties during tele-consultation in...
Construction and validation of an audio-visual tool to instruct caregivers of patients with pemphigus in photographing skin and oral cavity lesions during tele-consultation: A cross-sectional study.
Background Owing to the lack of standardised audio-visual (A-V) instructions to take photographs, patients with pemphigus faced difficulties during tele-consultation in COVID-19 pandemic. Objective To construct and validate an A-V instruction tool to take photographs of skin and oral cavity lesions of pemphigus. Methods In this observational study, we included patients with pemphigus of either gender seeking tele-consultation, aged 18 years or older. A-V instructions demonstrating skin and oral cavity photography were designed and shared with the patients. They were requested to send pictures of lesions that complied with the instructions. They were then required to complete a 10-item questionnaire for face validation in the two following rounds. The videos were content validated by 14 experts in the field of clinical dermatology. Results Forty-eight patients took part in face validation. A majority of patients, 47 (97.9%) and 45 (93.8%); rated the audio and video quality as being above average, respectively. Forty-seven patients (97.9%) said the instructional videos were useful, and 42 patients (87.5%) said they did not need to take any further images to show how severe their disease was. The average scale content validity index for the instructions on skin imaging and the oral cavity imaging during round 1 of content validation was 0.863 and 0.836, respectively. Limitation Validated instruction videos are in Hindi language and need to be further translated and validated in other local languages for use in non-Hindi speaking regions. Conclusion A-V instructions were useful to take photographs during tele-consultation.
PubMed: 38841977
DOI: 10.25259/IJDVL_361_2023 -
Indian Journal of Dermatology,... May 2024
PubMed: 38841926
DOI: 10.25259/IJDVL_481_2024