Pemphigus and pemphigoids: Clinical presentation, diagnosis and therapy

Abstract

SummaryPemphigus and pemphigoid are two potentially life‐threatening groups of autoimmune diseases, characterized by autoantibodies targeting structural components of desmosomes or hemidesmosomes, respectively. Affected patients typically show itchy/painful plaques or blistering skin lesions and/or impairing mucosal blistering and erosions, which may strongly impact their quality of life. Since the milestone work of Walter Lever in 1953, who differentiated these two groups of diseases by histopathological analysis of the level of antibody‐mediated skin cleavage, enormous progresses occurred. Achievements made in laboratory diagnostics now allow to identify antigen specific structural proteins of the skin that are targeted by pathogenic autoantibodies. These progresses were accompanied by an increased understanding of the pathogenesis of these diseases thanks to the establishment of animal models reproducing disease and on studies on skin and blood of affected individuals, which have been leading to novel and disease‐specific treatments. Yet, given their phenotypical overlap with more common dermatological diseases, correct diagnosis and appropriate treatment are often delayed, in some cases leading to irreversible sequelae, including organ dysfunction (i.e., loss of vision in mucous membrane pemphigoid). Here, we provide a concise overview of the clinical appearance, diagnosis and therapeutic management of pemphigus and pemphigoid diseases.

Eine Patientin mit gleichzeitiger Epidermolysis bullosa acquisita, erworbener Hämophilie und disseminierten Warzen

“…Bei EBA handelt es sich um eine Autoimmunerkrankung der Haut und der Schleimhäute mit Blasenbildung, die durch IgG-Autoantikörper gegen das Protein Kollagen VII, einen Bestandteil der dermalepidermalen Junktionszone (DEJ), ausgelöst wird. 1,2 Die AHA hingegen wird durch zirkulierende IgG-Antikörper gegen Faktor V verursacht und stellt aufgrund des erhöhten Blutungsrisikos eine potenziell tödliche Erkrankung dar. Beide Erkrankungen können mit immunsuppressiven Medikamenten behandelt werden, zeigen jedoch häufig einen rezidivierenden Verlauf.…”

“…Auf der Grundlage dieser Befunde stellten wir die Diagnose EBA. 1,2 Die Patientin wurde zunächst mit oralem Prednisolon (0,5 mg/kg Körpergewicht [KG]/Tag) behandelt, da steroidsparende Mittel von der Patientin abgelehnt…”