BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a rare, potentially devastating autoimmune disease of the skin. IgG autoantibodies directed against type VII collagen (Col7), the major component of anchoring fibrils, induce skin fragility leading to cutaneous and mucocutaneous blister formation, which is mostly of a scarring phenotype. Thus, powerful and reproducible diagnostic assays are critical to establish the diagnosis of EBA early to avoid irreversible sequelae. OBJECTIVES: The present international, retrospective multicentre study included a large cohort of patients with EBA and evaluated the diagnostic power of four different diagnostic assays for the detection of anti-Col7 IgG autoantibodies. METHODS: Overall, 95 EBA sera and 200 control sera consisting of 100 bullous pemphigoid sera, 50 pemphigus vulgaris sera and 50 sera of healthy controls were tested for anti-Col7 IgG autoantibodies using indirect immunofluorescence (IIF), two commercial enzyme-linked immunosorbent assay (ELISA) systems and Western blot (WB) analysis. EBA sera were taken from patients with positive direct immunofluorescence and IgG reactivity in at least one of the immunoserological assays (IIF, ELISA, WB). RESULTS: A Col7-NC1/NC2 ELISA (MBL, Nagoya, Japan) showed the highest sensitivity (97·9%), followed by a Col7-NC1 ELISA (Euroimmun, Lübeck, Germany) (89·5%), WB with Col7-NC1 (85·3%), and IIF on saline-split human skin (74·7%). The specificities of both ELISA systems were comparable (NC1 98·7%, NC1/NC2 99·3%). Furthermore, WB was more sensitive than IIF, which was more specific. CONCLUSIONS: The two commercially available ELISA systems allow for a highly sensitive and specific diagnosis of EBA. The sensitivity of the Col7-NC1/NC2 ELISA is significantly higher compared with the ELISA based on the Col7-NC1 domain only.
- MeSH
- autoprotilátky metabolismus MeSH
- ELISA MeSH
- epidermolysis bullosa acquisita diagnóza MeSH
- fluorescenční mikroskopie MeSH
- imunoglobulin G imunologie metabolismus MeSH
- kolagen typ VII imunologie MeSH
- lidé MeSH
- puchýř imunologie MeSH
- retrospektivní studie MeSH
- studie případů a kontrol MeSH
- western blotting MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- hodnotící studie MeSH
- multicentrická studie MeSH
Gene editing with zinc finger nucleases, transcription activator-like effector nucleases, clustered regularly interspaced palindromic repeats (CRISPR)/CRISPR-associated proteins system, or meganucleases can, in principle, mediate any genome modification. Recent studies have shown that COL7A1 mutations in cells of patients with recessive dystrophic epidermolysis bullosa can be corrected by homology-directed DNA repair.
- MeSH
- epidermolysis bullosa dystrophica genetika MeSH
- kolagen typ VII genetika MeSH
- lidé MeSH
- oprava DNA * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- komentáře MeSH
Autoři představují případ pacienta sledovaného a léčeného 13 roků pro epidermolysis bullosa acquisita a morbus Crohn. Kombinovaná léčba imunosupresivy a kortikosteroidy měla pouze omezený morbostatický efekt. Zpočátku v dermatologickém klinickém obraze dominovala klasická forma, v průběhu onemocnění došlo také k postižení napodobující bulózní pemfigoid a Brunstingův-Perryův pemfigoid. U pacienta se přidružilo významné oční postižení.
The authors present a case of a patient with epidermolysis bullosa acquisita and Crohn's disease. The patient has been treated for 13 years with combined immunosuppressive and corticosteroid therapy with only limited morbostatic effect. Initially, classic form dominated in the clinical picture. Later, a bullous pemphigoid-like and a Brunsting-Perry pemphigoid-like lesions occurred, as well as a significant eye involvement.
- Klíčová slova
- subepidermální puchýře,
- MeSH
- Crohnova nemoc diagnóza farmakoterapie MeSH
- dospělí MeSH
- epidermolysis bullosa acquisita * diagnóza farmakoterapie patofyziologie patologie MeSH
- imunoglobulin G krev MeSH
- imunosupresiva terapeutické užití MeSH
- kolagen typ VII MeSH
- lidé MeSH
- nemoci očních víček komplikace MeSH
- nemoci rohovky * diagnóza komplikace MeSH
- nemoci spojivky diagnóza komplikace MeSH
- poruchy zraku komplikace MeSH
- progrese nemoci MeSH
- protilátky krev MeSH
- slzné ústrojí * patologie MeSH
- terapie neúspěšná MeSH
- zraková ostrost MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
