Immunofluorescence antigen mapping for hereditary epidermolysis bullosa

Abstract

Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders that are caused by mutations in the structural proteins in the epidermis or dermoepidermal junction. Characteristic clinical picture is the presence of blisters at trauma prone areas of the body, which develops at or soon after birth. Availability of specific monoclonal antibodies against the target proteins together with advances in the molecular genetics have led to the revision in the classification of EB. Now four major types of EB are recognized depending upon the level of blister and the location of target protein: EB simplex (epidermolytic), junctional EB (lucidolytic), dystrophic EB (dermolytic) and Kindler's syndrome (mixed cleavage plane). The laboratory tests not only help to confirm the diagnosis of EB but are also an important tool to classify (and subtype) EB. These include immunofluorescence antigen mapping (IFM), transmission electron microscopy (TEM) and mutation analysis. IFM is the most preferred method for final diagnosis of EB worldwide. It is relatively easy to perform and results can be obtained rapidly. This article describes the technicalities and significance of IFM in various types of EB.

Advanced diagnostic techniques in autoimmune bullous diseases

“…[21] Alternatively, normal saline can be used if biopsy sample can be shipped to the IF laboratory within 24 h.[22] Recently, it has been shown that skin biopsy samples meant for immunofluorescence can be stored in honey; immunoreactants are preserved for up to 20 days making it an alternate transport medium for direct immunofluorescence studies. [23]…”

“…Using a panel of EB skin (with a known deficient BMZ protein) as a substrate and serum of patients with SIBDs, one can detect the target antigens in certain SIBDs using a modified IIF. [24] This technique may especially be useful to differentiate “floor-”binding SIBDs such as EBA, p-200 pemphigoid, and laminin 332 pemphigoid. Serum of patients with EBA will have antibodies against collagen Type VII; this protein is deficient in recessive dystrophic EB (RDEB) skin.…”

Ex Vivo Blister Induction

“…3 The biopsy should be taken from freshly induced blisters. 3 The biopsy should be taken from freshly induced blisters.…”

Az epidermolysis bullosa szájüregi tünetei és annak ellátása

“…Prevalenciájára vonatkozóan nincs pontos adat, elő-fordulása több irodalmi forrás, bőrgyógyászati jelentés alapján 1 millió élveszületésre 1-50 érintettre tehető [1][2][3][4][5][6]. Az esetek egy részében már a születéskor jelen vannak az elváltozások, míg az enyhe tüneteket mutató páciensek csak kisded-vagy akár csak felnőttkorban fordulnak panaszaikkal orvoshoz [7].…”