The evolving role of rituximab in the treatment of pemphigus vulgaris: a comprehensive state-of-the-art review.

Introduction: Pemphigus vulgaris (PV) is a life-threatening autoimmune mucocutaneous blistering disease. Systemic corticosteroids (CS), while life-saving, have several serious side effects. To improve treatment and prognosis, recently rituximab (RTX), a chimeric monoclonal antibody against CD20 molecule on B cells, has become popular.

Meta-Analysis of Mutations in or Identified in a Large Cohort of 224 Patients.

The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: , , , , , , , , , and . The main focus of this report is the mutational spectrum of the genes and , which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.

Diagnostic Utility of C4d by Direct Immunofluorescence in Bullous Pemphigoid.

Bullous pemphigoid (BP) is an autoimmune blistering disease that commonly affects elderly patients. Direct immunofluorescence (DIF) for immunoglobulin G (IgG) and C3c on frozen skin biopsies is the gold standard for the diagnosis of BP. In a minority of cases, IgG and/or C3c are found negative, and in these situations, there is a need for a more stable diagnostic marker of BP.

Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

Background: Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well-characterized cohorts.

Objectives: To evaluate the epidemiological data on EB in the Netherlands, extracted from the molecularly well-characterized cohort in the Dutch EB Registry.

Updated S2K guidelines on the management of pemphigus vulgaris and foliaceus initiated by the european academy of dermatology and venereology (EADV).

Background: Pemphigus encompasses a group of life-threatening autoimmune bullous diseases characterized by blisters and erosions of the mucous membranes and skin. Before the era of immunosuppressive treatment, pemphigus was almost always fatal. Due to its rarity, only few randomized controlled therapeutic trials are available.

Autoantibody Detection for Diagnosis in Direct Immunofluorescence-Negative Mucous Membrane Pemphigoid: Ocular and Other Sites Compared.

Purpose: To assess whether a panel of serum pemphigoid autoantibody tests could be used to confirm an immunopathologic diagnosis of mucous membrane pemphigoid (MMP) in direct immunofluorescent negative (DIF-) MMP patients.

Design: Prospective cross-sectional study.

Participants: Seventy-six patients with multisite MMP with 45 matched control participants.

Post-rituximab immunoglobulin M (IgM) hypogammaglobulinemia.

Rituximab is a B cell depleting monoclonal antibody that targets the B cell-specific cell surface antigen CD20 and is currently used to treat several autoimmune diseases. The elimination of mature CD20-positive B lymphocytes committed to differentiate into autoantibody-producing plasma cells is considered to be the major effect of rituximab, that makes it a beneficial biological agent in treating autoimmune diseases. Hypogammaglobulinemia has been reported after rituximab therapy in patients with lymphoma and rheumatoid arthritis.

Anti-p200 Pemphigoid: A Systematic Review.

The many clinical aspects of anti-p200 pemphigoid are not well-characterized. We aimed to analyze and correlate known existing data on the epidemiological, clinical, histological, and immunological features of anti-p200 pemphigoid. We performed a review using Medline, Embase, and Web of Science databases (1900-2018).

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.

Treatment of pemphigus vulgaris: part 2 - emerging therapies.

: Corticosteroids and immunosuppressive agents have been the mainstay for the treatment of pemphigus vulgaris (PV). While they have benefited patients, they have been associated with the risks of prolonged immune suppression and a high incidence of significant and catastrophic side effects. Relapses are common.

Treatment of pemphigus vulgaris: part 1 - current therapies.

: While biologic agents that can be used for treating pemphigus vulgaris (PV) are increasing, themajority of the world's PV patients can afford only corticosteroids (CS) and some immunosuppressive agents (ISA). : The spectrum of side effects encountered when PV patients receive high-dose, long-term CS and ISA are presented based on total dose and duration of therapy. The steroid-sparing effect of individual ISA as documented in published studies and their clinical outcomes, in terms of duration of remissions, frequency of relapses and time to relapse, are presented, so that comparisons are possible.

Keratinocyte footprint assay discriminates antilaminin-332 pemphigoid from all other forms of pemphigoid diseases.

Background: Antilaminin-332 mucous membrane pemphigoid is a chronic severe pemphigoid disease characterized by autoantibodies to laminin-332. At present no commercial assay is available to demonstrate antilaminin-332 antibodies, and diagnosis relies on in-house techniques with limited sensitivities.

Objectives: In order to move, keratinocytes cultured in vitro secrete laminin-332 to attach to the culture dish.

Pyoderma gangrenosum-like lesion secondary to methylenetetrahydrofolate reductase mutation: an unusual presentation of a rare disease.

Pyoderma gangrenosum (PG)-like ulcerations are a rare clinical manifestation of methylenetetrahydrofolate reductase (MTHFR) mutation. We describe a patient considered to have PG who was treated with long-term high doses of systemic corticosteroids and multiple immunosuppressive agents for several years. In spite of this continuous aggressive therapy, the lesions did not improve but continued to get worse.

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.

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.

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.