Abstract
BackgroundInherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant component of the anchoring fibrils at the dermal-epidermal junction.For the first time in literature, we have evaluated the presence of anti-skin autoantibodies in a wider cohort of patients suffering from inherited EB and ascertained whether they may be a marker of disease activity.MethodsSera from patients with inherited EB, 17 with recessive dystrophic EB (RDEB), 10 with EB simplex (EBS) were analysed. As much as 20 patients with pemphigus vulgaris, 21 patients with bullous pemphigoid and 20 healthy subjects were used as controls.Anti-skin autoantibodies were tested in all samples with the Indirect Immunofluorescence (IIF) method and the currently available ELISA method in order to detect anti-type VII collagen, anti-BP180 and anti-BP230 autoantibodies.ResultsThe mean concentrations of anti-type VII collagen autoantibodies titres, anti-BP180 and anti-BP230 autoantibodies were statistically higher in RDEB patients than in EBS patients.The sensitivity and specificity of the anti-type VII collagen ELISA test were 88.2% and 96.7%. The Birmingham Epidermolysis Bullosa Severity score, which is used to evaluate the severity of the disease, correlated with anti-skin autoantibodies titres.ConclusionsThe precise pathogenic role of circulating anti-skin autoantibodies in RDEB is unclear. There is a higher prevalence of both anti-type VII collagen and other autoantibodies in patients with RDEB, but their presence can be interpreted as an epiphenomenon.
Highlights
Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes
Tissue separation occurs within the intraepidermal keratinocyte cytoplasm in EB simplex (EBS), through the lamina lucida in junctional EB (JEB) or in the sublamina densa in dystrophic EB (DEB) [3]; in Kindler syndrome, multiple cleavage planes may be seen within the same sample of skin [4]
To facilitate our understanding of DEB, we have evaluated the presence of anti-skin autoantibodies in a wider cohort of patients suffering from DEB and ascertained whether they correlated with the disease severity
Summary
Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes. There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Epidermolysis bullosa (EB) is a group of both acquired and inherited diseases characterized by blistering of the skin and mucous membranes, in response to little or no apparent trauma [1]. After the initial clinical evaluation, based on careful examination of cutaneous and extracutaneous manifestations and inheritance pattern, the diagnosis is confirmed by the use of three main techniques: immunofluorescence mapping (IFM), transmission electron microscopy (TEM), which can both be used to identify the level of skin cleavage, and mutation analysis [7]. A previous study has shown that IFM is more sensitive (97% vs. 71%) and specific (100% vs. 81%) than TEM [9]
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