JEDLIČKOVÁ, Hana, Rolf Peter MÜLLER, Daniele CASTIGLIA, Milica KOVACEVIC and Josef FEIT. Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII. Feit J. European Journal of Dermatology. Francie: John Libbey Eurotext, 2012, vol. 22, No 4, p. 541-542, 3 pp. ISSN 1167-1122. doi:10.1684/ejd.2012.1709.
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Basic information
Original name Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII
Authors JEDLIČKOVÁ, Hana (203 Czech Republic, guarantor, belonging to the institution), Rolf Peter MÜLLER (276 Germany), Daniele CASTIGLIA (380 Italy), Milica KOVACEVIC (203 Czech Republic) and Josef FEIT (203 Czech Republic, belonging to the institution).
Feit J.
Edition European Journal of Dermatology, Francie, John Libbey Eurotext, 2012, 1167-1122.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30216 Dermatology and venereal diseases
Country of publisher France
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 1.756
RIV identification code RIV/00216224:14110/12:00061258
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1684/ejd.2012.1709
UT WoS 000308371200018
Keywords in English 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
Tags International impact, Reviewed
Changed by Changed by: Ing. Mgr. Věra Pospíšilíková, učo 9005. Changed: 20. 2. 2013 01:11.
Abstract
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.
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