Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F12%3A00061258" target="_blank" >RIV/00216224:14110/12:00061258 - isvavai.cz</a>
Alternative codes found
RIV/00159816:_____/12:#0001039
Result on the web
<a href="http://dx.doi.org/10.1684/ejd.2012.1709" target="_blank" >http://dx.doi.org/10.1684/ejd.2012.1709</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1684/ejd.2012.1709" target="_blank" >10.1684/ejd.2012.1709</a>

Result language
angličtina
Original language name
Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII
Original language description
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 anautoimmune bullous disease with formation of autoanti-bodies against collagen VII. We report a dominant DEB-Pr (DDEB-Pr) with features of EBA.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FO - Dermatology and venereology
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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