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Diagnosing Skin Disease
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
A variety of laboratory tests are available for dermatologists to establish or confirm a specific diagnosis. In women with hirsutism, hormone levels can be obtained to confirm hyperandrogenism. Venereal disease research laboratory or rapid plasma reagin tests may be obtained in patients suspected of syphilis. Antinuclear antibody testing and tissue antibodies are often reported through titers and can support the diagnosis of diseases, such as systemic lupus erythematosus and a variety of vasculitides. The clinical interpretation of these tests can often be challenging when patients present in an atypical manner or results are borderline. Enzyme-linked immunosorbent assay tests are available to aid in the diagnosis of several autoimmune blistering diseases, such as pemphigus, pemphigoid, and dermatitis herpetiformis. In the case of pemphigus, the detection and level of anti-desmoglein antibodies can contribute to confirming a diagnosis and monitoring the disease course.
Epithelial Cells
Published in Bruce S. Bochner, Adhesion Molecules in Allergic Disease, 2020
A variety of proteins and glycoproteins make up the different portions of the desmosome. Membrane glycoproteins, known as desmogleins or desmocollins, project into the intercellular space to form an intercellular adhesive structure (45). Three desmogleins have been identified (48): desmoglein I has a molecular weight of 150 kD, desmoglein II is a 110–120 kD protein, and desmoglein III is considerably smaller (22 kD). Although desmoglein I is also found in the desmosomal plaque (49), the cytoplasmic side of the desmosome is primarily composed of four nonglycosylated proteins called desmoplakins. Desmoplakins I and II (250 kD and 215 kD, respectively) are somewhat larger proteins than desmoplakins III and IV (83 kD and 78 kD, respectively) (50). Desmin, vimentin, and particularly cytokeratin, make up the tonofilaments (45). Cytokeratin expression is often used as a characteristic feature of epithelial cells.
Pemphigus
Published in Lionel Fry, Atlas of Bullous Diseases, 2020
The primary pathological event in pemphigus is the loss of adhesion of the epidermal cells. The attachment of epidermal cells is mainly through the desmosomes, and to a lesser extent by so-called ‘tight’ or ‘adherence’ junctions. The desmosome is made up of structures called Cadherins which are divided into desmogleins and desmocollins. These structures have an intracellular, a transmembrane and an extracellular component. Intracellularly they are attached to the keratin cytoskeleton and extra-cellularly to that of another cell forming the desmosome (Figure 3.2). Desmogleins are subdivided into desmogleins 1, 2 and 3 and are intracellular components of the desmosome (Figure 3.2). Desmoglein 3 is expressed only in the basal and suprabasal layers of the epidermis, whereas desmoglein 1 is expressed throughout the epidermis but mainly in the upper layers. In mucosae, desmoglein 3 is strongly expressed throughout the epithelium and desmoglein 1 only weakly.
Dysregulated translational factors and epigenetic regulations orchestrate in B cells contributing to autoimmune diseases
Published in International Reviews of Immunology, 2023
Ming Yang, Ping Yi, Jiao Jiang, Ming Zhao, Haijing Wu, Qianjin Lu
Pemphigus, a kind of skin and/or mucous membrane involved autoimmune disease, is characterized with acantholysis resulted from pathogenic autoantibody IgG against desmoglein (Dsg) 1/3 in the epidermis. TF Aire plays an essential part in the production of self-antigens like Dsg1/3 in thymus, which induces negative selection of B cells in central tolerance [237]. Ectopic lymphoid-like structures (ELSs) were diffusely distributed in the lesions of pemphigus vulgaris (PV) and pemphigus foliaceus (PF), which consisted of differentially differentiated B cells featured with elevated mRNA level of TFs Blimp1, IRF4 and Bcl6, as well as chemokines and its receptors [238]. Global DNA methylation and Dnmt1 expression were increased, while histone methylation and acetylation were decreased due to upregulated HDAC1/2 and downregulated SUV39H1 and EZH2 in PBMCs of PV patients [44]. Remarkably, variants in KDM4C gene and the other three genes encoding HMTs (SETD7/KMT7, MECOM/KMT8E and PRDM16/KMT8F) were associated with RF risk, indicating that histone (de)methylation plays a major part in epigenetic regulations of PF, rather than DNA (de)methylation [47].
Long-term experience with rituximab therapy for treatment-resistant moderate-to-severe pemphigus
Published in Journal of Dermatological Treatment, 2022
Burçin Cansu Bozca, Aslı Bilgiç, Soner Uzun
Pemphigus is a potentially life-threatening autoimmune bullous disease that involves the skin and mucous membranes, which is characterized by flaccid bullae, erosions, and detectable serum concentrations of autoantibodies against desmoglein 1 (dsg1) and desmoglein 3 (dsg3) (1–3). Rituximab (RTX) is a human-mouse chimeric monoclonal antibody that targets CD20 on B lymphocytes and has been used to treat pemphigus since 2002 (4). There is an increasing body of evidence from case reports and case series that RTX has high efficacy in this setting, especially for patients who do not respond to traditional treatments (5–15). A randomized controlled trial also confirmed the potent efficacy of RTX and its superiority over systemic corticosteroids (16), which has led to RTX being included in recent guidelines as a first-line treatment option for pemphigus (17,18). However, there are limited long-term data regarding RTX therapy for pemphigus (19–27). Therefore, the present study aimed to evaluate the long-term safety and efficacy of RTX therapy for patients with moderate-to-severe pemphigus that was resistant to conventional therapies.
The value of desmosomal plaque-related markers to distinguish squamous cell carcinoma and adenocarcinoma of the lung
Published in Upsala Journal of Medical Sciences, 2020
Inmaculada Galindo, Mercedes Gómez-Morales, Inés Díaz-Cano, Álvaro Andrades, Mercedes Caba-Molina, María Teresa Miranda-León, Pedro Pablo Medina, Joel Martín-Padron, María Esther Fárez-Vidal
Desmoglein 3 (DSG3) is one of seven desmosomal cadherins. Desmosomal proteins act as tumour suppressors and are downregulated in epithelial–mesenchymal transition and in tumour cell invasion and metastasis. However, some studies have shown the upregulation of several desmosomal components in cancer, including DSG3, and overexpression of these proteins has been related to the prognosis. Therefore, desmosomal proteins can potentially serve as diagnostic and prognostic markers (22). Keratin 15 (KRT15) is a type I keratin protein present in the basal keratinocytes of stratified epithelium. For this reason, it has been reported as a marker of stem cells. However, several studies have demonstrated KRT15 expression in differentiated cells (23). Our group previously reported that gene sequences corresponding to the desmosomal plaque-related proteins PKP1, DSG3, and KRT15 were differentially expressed in primary AC and SCC of the lung (24). Subsequently, we also described the localization of PKP1 in nucleus, cytoplasm, and cell membrane in tumours and proposed the utilization of these proteins as immunohistochemical markers (25).