Research in practice: diagnosis of subepidermal autoimmune bullous disorders

Abstract

Subepidermal autoimmune bullous disorders are a heterogeneous group of diseases that are associated with autoantibodies to hemidesmosomal proteins (pemphigoid group, epidermolysis bullosa acquisita) or epidermal/tissue transglutaminase (dermatitis herpetiformis). Characterization of the target antigens has led to the description of novel entities such as anti-p200 pemphigoid and has greatly facilitated the diagnosis of these diseases. Precise identification of target antigens is of therapeutic relevance since treatment options may greatly differ between these disorders. By the use of various in vitro and in vivo systems, the pathogenic relevance of autoantibodies to different hemidesmosomal constituents, including BP180 (type XVII collagen), laminin 332 (laminin 5), alpha6beta4 integrin, and type VII collagen has been demonstrated. The translation of this basic scientific work has subsequently led to the development of specific autoantibody detection systems that are not only of diagnostic use but also allow the monitoring of circulating autoantibody levels during the course of the disease and thus are helpful in guiding treatment decisions in these patients.

Pseudosyndactyly – an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa

“…Increased inflammatory processes and chronic wounds are also consistent with the increased incidence of squamous cell carcinoma in RDEB, especially in chronic wounds (reviewed in ). The importance of inflammation and fibrosis in RDEB is also underlined by findings in patients with epidermolysis bullosa acquisita (EBA), a subepidermal autoimmune bullous disorder caused by autoantibodies against collagen type VII (reviewed in ). EBA lesions heal with scarring, and some EBA patients show fibrosis of the hands and fingers as well as inflammation (reviewed in ).…”

Treatment of anti‐laminin γ1 pemphigoid with mycophenolate mofetil

“…Anti-laminin γ1 pemphigoid is a very rare autoimmune bullous disorder that mainly affects patients between the ages of 50 and 70 [7,8]. An association with psoriasis has been reported on multiple occasions [3,5,9]; our patient also had a more than 30-year history of psoriasis.…”

Pseudosyndaktylie – eine entzündliche und fibrotische Wundheilungsstörung bei rezessiver Epidermolysis bullosa dystrophica

“…Das vermehrte Auftreten entzündlicher Prozesse und chronischer Wunden steht auch im Einklang mit der erhöhten Inzidenz von Plattenepithelkarzinomen bei RDEB, insbesondere in chronischen Wunden (Übersicht in ). Die Bedeutung von Entzündung und Fibrose bei RDEB wird auch durch Ergebnisse bei Patienten mit Epidermolysis bullosa acquista (EBA) unterstrichen, einer subepidermalen bullösen Autoimmunkrankheit, die von Autoantikörpern gegen Kollagen Typ VII verursacht wird (Übersicht in ). EBA‐Läsionen heilen unter Vernarbung ab, und bei manchen Patienten treten Fibrose in Händen und Fingern sowie Entzündung auf (Übersicht in ).…”