Tryptic Shaving of Unveils Immunodominant Epitopes on the Bacterial Cell Surface.

The opportunistic pathogen has become a major threat for human health and well-being by developing resistance to antibiotics and by fast evolution into new lineages that rapidly spread within the healthy human population. This calls for development of active or passive immunization strategies to prevent or treat acute phase infections. Since no such anti-staphylococcal immunization approaches are available for clinical implementation, the present studies were aimed at identifying new leads for their development.

Giant Arcuate Lupus Vulgaris with Rapid Progression: A Case Report.

Lupus vulgaris is the commonest form of cutaneous tuberculosis. It is a chronic and slowly progressive disease. It can be transmitted either through hematogenous or lymphatic spread but most commonly through contiguous extension.

Endocytosis of IgG, Desmoglein 1, and Plakoglobin in Pemphigus Foliaceus Patient Skin.

Pemphigus foliaceus (PF) is one of the two main forms of pemphigus and is characterized by circulating IgG to the desmosomal cadherin desmoglein 1 (DSG1) and by subcorneal blistering of the skin. The pathomechanism of blister formation in PF is unknown. Previously we have shown that PF IgG induces aggregation of DSG1, plakoglobin (PG), and IgG outside of desmosomes, what in immunofluorescence of PF patient skin visualizes as a granular IgG deposition pattern with a limited number of coarse IgG aggregates between cells.

Prevalence of Pemphigoid as a Potentially Unrecognized Cause of Pruritus in Nursing Home Residents.

This cross-sectional study of 125 residents of 7 nursing homes in the Netherlands evaluates the prevalence of pemphigoid as a potentially unrecognized cause of pruritus.

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.

Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, and can be inherited dominantly or recessively. Recently, promising proof-of-principle has been shown for antisense oligonucleotide (AON)-mediated exon skipping as a therapeutic approach for DEB.

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.

Peeling skin disease is a rare genodermatosis characterized by superficial exfoliation or peeling of the skin. Peeling skin disease is caused by biallelic mutations in CDSN as an autosomal recessive trait. Monoallelic mutations in CDSN have also been described in an autosomal dominant inherited genodermatosis: hypotrichosis simplex of the scalp.

Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions.

Porphyria cutaneatarda, is the most common type of porphyria.It is characterized by defective uroporphyrinogen III decarboxylase enzyme.It presents with erosion, bulla with milia formation and sometimes with hypertrichosis and abnormal pigmentation mostly on the photo-exposed sites.

Nonbullous pemphigoid: Insights in clinical and diagnostic findings, treatment responses, and prognosis.

Background: Nonbullous pemphigoid is an under-recognized phenotype of the autoimmune bullous disease pemphigoid, characterized by the absence of blisters. Several disease aspects have not been studied previously.

Objective: To describe the characteristics of nonbullous pemphigoid.

Incomplete Systemic Lupus Erythematosus: What Remains After Application of American College of Rheumatology and Systemic Lupus International Collaborating Clinics criteria?

Incomplete systemic lupus (iSLE) is an acknowledged condition of patients with clinical signs of lupus who do not fulfill classification criteria for SLE. Some patients with iSLE have persistent mild disease, but others have serious organ involvement, and up to 55% progress to established SLE. Research on this subject could reveal predictive or diagnostic biomarkers for SLE.

Impact of Painful Wound Care in Epidermolysis Bullosa During Childhood: An Interview Study with Adult Patients and Parents.

Epidermolysis bullosa (EB) is a group of rare inherited bullous skin disorders that differ in nature and severity. Currently, there is no cure for the disease. One of the complex problems of EB is the repetitive and painful care of skin wounds.

Epidermolysis Bullosa Acquisita: The 2019 Update.

Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Patients with EBA suffer from chronic inflammation as well as blistering and scarring of the skin and mucous membranes. Current treatment options rely on non-specific immunosuppression, which in many cases, does not lead to a remission of treatment.

Assessment of Diagnostic Strategy for Early Recognition of Bullous and Nonbullous Variants of Pemphigoid.

Importance: A substantial number of patients with bullous pemphigoid do not develop skin blisters and may not have received the correct diagnosis. Diagnostic criteria and an optimal diagnostic strategy are needed for early recognition and trials.

Objectives: To assess the minimal requirements for diagnosis of bullous and nonbullous forms of pemphigoid and to evaluate the optimal diagnostic strategy.

Detection of u-serrated patterns in direct immunofluorescence images of autoimmune bullous diseases by inhibition-augmented COSFIRE filters.

Direct immunofluorescence (DIF) microscopy of a skin biopsy is used by physicians and pathologists to diagnose autoimmune bullous dermatoses (AIBD). This technique is the reference standard for diagnosis of AIBD, which is used worldwide in medical laboratories. For diagnosis of subepidermal AIBD (sAIBD), two different types of serrated pattern of immunodepositions can be recognized from DIF images, namely n- and u-serrated patterns.

[Pruritus in elderly: diagnosis and treatment].

Pruritus is the most common dermatological complaint in elderly people and may have a significant negative influence on quality of life. In elderly, the identification of the underlying cause of pruritus can be difficult, due to the broad differential diagnosis and the frequent occurence of comorbidities and polypharmacy. In daily practice, a classification can be used of 'pruritus with primary skin lesions' and 'pruritus without primary skin lesions' for a more specific search to the underlying cause.

KLHL24: Beyond Skin Fragility.

KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies focused on skin fragility. However, the picture of KLHL24 mutations causing extracutaneous human disease is emerging, with dilated cardiomyopathy as a strong association.

Perspective From the 5th International Pemphigus and Pemphigoid Foundation Scientific Conference.

The 5th Scientific Conference of the International Pemphigus and Pemphigoid Foundation (IPPF), "Pemphigus and Pemphigoid: A New Era of Clinical and Translational Science" was held in Orlando, Florida, on May 15-16, 2018. Scientific sessions covered recent, ongoing, and future clinical trials in pemphigus and bullous pemphigoid, disease activity and quality of life instruments, and the IPPF Natural History Study. Furthermore, the meeting provided an opportunity to hear firsthand from patients, investigators, and industry about their experience enrolling for clinical trials.

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Aims: Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the genetic substrate remains unknown. We hypothesized that plectin, a cytolinker protein encoded by the PLEC gene, could play a role in ARVC because it has been proposed to link the desmosomal protein desmoplakin to the cytoskeleton and therefore has a potential function in the desmosomal structure.

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin and mucous membrane fragility disorder complicated by early-onset, highly malignant cutaneous squamous cell carcinomas (SCCs). The molecular etiology of RDEB SCC, which arises at sites of sustained tissue damage, is unknown. We performed detailed molecular analysis using whole-exome, whole-genome, and RNA sequencing of 27 RDEB SCC tumors, including multiple tumors from the same patient and multiple regions from five individual tumors.

Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa.

Human skin graft mouse models are widely used to investigate and develop therapeutic strategies for the severe generalized form of recessive dystrophic epidermolysis bullosa (RDEB), which is caused by biallelic null mutations in COL7A1 and the complete absence of type VII collagen (C7). Most therapeutic approaches are focused on reintroducing C7. Therefore, C7 and anchoring fibrils are widely used as readouts in therapeutic research with skin graft models.

Keratinocyte Binding Assay Identifies Anti-Desmosomal Pemphigus Antibodies Where Other Tests Are Negative.

The serological diagnosis of pemphigus relies on the detection of IgG autoantibodies directed against the epithelial cell surface by indirect immunofluorescence (IIF) on monkey esophagus and against desmoglein 1 (Dsg1) and Dsg3 by ELISA. Although being highly sensitive and specific tools, discrepancies can occur. It is not uncommon that sera testing positive by ELISA give a negative result by IIF and .