Informace o publikaci
Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII
| Autoři | |
|---|---|
| Rok publikování | 2012 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | European Journal of Dermatology |
| Fakulta / Pracoviště MU | |
| Citace | |
| Doi | http://dx.doi.org/10.1684/ejd.2012.1709 |
| Obor | Dermatovenerologie |
| Klíčová slova | adult; atrophic skin disease; blister; case report; clinical feature; COL7A1 gene; disease duration; epidermolysis bullosa; female; gene; gene mutation; heterozygosity; human; immunoblotting; immunofluorescence; iron deficiency anemia |
| Přiložené soubory | |
| Popis | Dystrophic epiclermolysis bullosa (DEB) is a group of hereditary blistering diseases with tissue separation under the basement membrane at the level of anchoring fibrils. DEB pruriginosa subtype (DEB-Pr) is characterized by fragile skin, blisters, pruritic lichcnoid papules on the shins and toenail dystrophy; some cases have a very late onset [1]. All DEB are caused by mutations in the COL7A1 gene encoding the alpha-1 chain of collagen VII of anchoring fibrils. Acquired epidermolysis bullosa (EBA) is an autoimmune bullous disease with formation of autoanti-bodies against collagen VII. We report a dominant DEB-Pr (DDEB-Pr) with features of EBA. |