Current status and prospects for the diagnosis of pemphigus vulgaris

ABSTRACT

Introduction: Pemphigus vulgaris (PV) is an intraepidermal autoimmune bullous disease (AIBD) characterized by autoantibodies against desmosomal adhesion proteins, most commonly desmoglein (Dsg)3, leading to the suprabasal cleft formation and acantholysis.

Areas covered: Direct immunofluorescence (DIF) and indirect immunofluorescence (IIF) studies display the intercellular deposition of IgG/C3 throughout the epidermis and presence of circulating autoantibodies respectively, as a net-like pattern. However, the target antigen remains unknown using immunofluorescence techniques. Thanks to the development of Dsg ELISA, using recombinant technology, circulating antibodies against Dsg1 and 3 could be detected sensitively. It is possible to differentiate PV from pemphigus foliaceus (PF) using this assay. BIOCHIP mosaic and multivariant ELISA are two novel serologic methods with the added value of the ability to screen several AIBDs simultaneously.

Non-Dsg1/3 antigens are also involved in the pathogenesis of PV and investigated more deeply thanks to the protein microarrays technique. Additionally, patients with high values of anti-Dsg1/3 may be lesion-free, suggesting the presence of nonpathogenic autoantibodies.

Expert opinion: Newer diagnostic methods to replace traditional techniques should possess high sensitivity and specificity and be widely available, noninvasive, and relatively cheap. The newly developed methods need to be further evaluated before being recommended for routine use.

KEYWORDS:

• Autoimmune bullous diseases
• pemphigus
• diagnosis
• histopathology
• enzyme-linked immunosorbent assay
• BIOCHIP
• immunofluorescence
• reflectance confocal microscopy
• optical coherence tomograph

Article Highlights

• Pemphigus vulgaris is a life-threatening disease manifesting with blisters and erosions on both skin and mucosa in response to autoantibodies against structural proteins of the desmosome.

• Direct immunofluorescence (DIF) is the gold standard test for the diagnosis of pemphigus vulgaris.

• The diagnosis is based on histopathology and immunologic tests such as DIF, indirect immunofluorescence (IIF), and enzyme-linked immunosorbent assay (ELISA) to detect autoantibodies.

• Desmoglein ELISA is a relatively inexpensive, reliable and sensitive technique for detecting autoantibodies that is used to diagnose and monitor the course of the disease.

• BIOCHIP mosaic and multivariant ELISA are novel one-step methods that are being used to screen several autoimmune bullous diseases simultaneously.

• In the presence of characteristic clinical features, there is no consensus regarding an accurate and reliable non-invasive alternative of histopathology and direct immunofluorescence in the diagnosis of pemphigus.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewers disclosure

Peer reviewers on this manuscript have no relevant financial relationships or otherwise to disclose.

Additional information

Funding

This paper was not funded.