Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Anais brasileiros de dermatologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962012000100017 |
Resumo: | In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss. A 46 year-old female patient presented blisters with a pretibial distribution associated with nail dystrophy. Her two children had hyponychia and anonychia, which affected all toe nails and the thumb, forefinger and middle finger. DNA sequencing identified in exon 75 of COL7A1 gene a pathologic mutation: c.6235G>A (p.Gly2079Arg). Immunomapping of a blister demonstrated collagen IV (basal membrane) in the blister roof and collagen VII in its floor, confirming dystrophic epidermolysis bullosa. Scanning electron microscopy of an inverted blister showed net-forming collagen attached to the blister roof . The variability found in this family has already been reported and confirms, on a clinical basis, the nail subtype as a dystrophic variant. |
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Anais brasileiros de dermatologia (Online) |
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Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopyEpidermolysis bullosa dystrophicaGenetic variationMicroscopy, electron, scanningNailsSkin diseasesvesiculobullousIn dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss. A 46 year-old female patient presented blisters with a pretibial distribution associated with nail dystrophy. Her two children had hyponychia and anonychia, which affected all toe nails and the thumb, forefinger and middle finger. DNA sequencing identified in exon 75 of COL7A1 gene a pathologic mutation: c.6235G>A (p.Gly2079Arg). Immunomapping of a blister demonstrated collagen IV (basal membrane) in the blister roof and collagen VII in its floor, confirming dystrophic epidermolysis bullosa. Scanning electron microscopy of an inverted blister showed net-forming collagen attached to the blister roof . The variability found in this family has already been reported and confirms, on a clinical basis, the nail subtype as a dystrophic variant.Sociedade Brasileira de Dermatologia2012-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962012000100017Anais Brasileiros de Dermatologia v.87 n.1 2012reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/S0365-05962012000100017info:eu-repo/semantics/openAccessAlmeida Jr,Hiram Larangeira deMonteiro,Luciane Maria AlvesGoetze,Fernanda MendesSilva,Ricardo Marques eRocha,Nara Moreiraeng2012-04-02T00:00:00Zoai:scielo:S0365-05962012000100017Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2012-04-02T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false |
dc.title.none.fl_str_mv |
Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy |
title |
Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy |
spellingShingle |
Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy Almeida Jr,Hiram Larangeira de Epidermolysis bullosa dystrophica Genetic variation Microscopy, electron, scanning Nails Skin diseases vesiculobullous |
title_short |
Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy |
title_full |
Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy |
title_fullStr |
Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy |
title_full_unstemmed |
Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy |
title_sort |
Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy |
author |
Almeida Jr,Hiram Larangeira de |
author_facet |
Almeida Jr,Hiram Larangeira de Monteiro,Luciane Maria Alves Goetze,Fernanda Mendes Silva,Ricardo Marques e Rocha,Nara Moreira |
author_role |
author |
author2 |
Monteiro,Luciane Maria Alves Goetze,Fernanda Mendes Silva,Ricardo Marques e Rocha,Nara Moreira |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Almeida Jr,Hiram Larangeira de Monteiro,Luciane Maria Alves Goetze,Fernanda Mendes Silva,Ricardo Marques e Rocha,Nara Moreira |
dc.subject.por.fl_str_mv |
Epidermolysis bullosa dystrophica Genetic variation Microscopy, electron, scanning Nails Skin diseases vesiculobullous |
topic |
Epidermolysis bullosa dystrophica Genetic variation Microscopy, electron, scanning Nails Skin diseases vesiculobullous |
description |
In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss. A 46 year-old female patient presented blisters with a pretibial distribution associated with nail dystrophy. Her two children had hyponychia and anonychia, which affected all toe nails and the thumb, forefinger and middle finger. DNA sequencing identified in exon 75 of COL7A1 gene a pathologic mutation: c.6235G>A (p.Gly2079Arg). Immunomapping of a blister demonstrated collagen IV (basal membrane) in the blister roof and collagen VII in its floor, confirming dystrophic epidermolysis bullosa. Scanning electron microscopy of an inverted blister showed net-forming collagen attached to the blister roof . The variability found in this family has already been reported and confirms, on a clinical basis, the nail subtype as a dystrophic variant. |
publishDate |
2012 |
dc.date.none.fl_str_mv |
2012-02-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962012000100017 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962012000100017 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0365-05962012000100017 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Dermatologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Dermatologia |
dc.source.none.fl_str_mv |
Anais Brasileiros de Dermatologia v.87 n.1 2012 reponame:Anais brasileiros de dermatologia (Online) instname:Sociedade Brasileira de Dermatologia (SBD) instacron:SBD |
instname_str |
Sociedade Brasileira de Dermatologia (SBD) |
instacron_str |
SBD |
institution |
SBD |
reponame_str |
Anais brasileiros de dermatologia (Online) |
collection |
Anais brasileiros de dermatologia (Online) |
repository.name.fl_str_mv |
Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD) |
repository.mail.fl_str_mv |
abd@sbd.org.br||revista@sbd.org.br |
_version_ |
1752126417897783296 |