Sporadic Kindler Syndrome with a novel mutation

Detalhes bibliográficos
Autor(a) principal: Almeida Jr,Hiram Larangeira de
Data de Publicação: 2013
Outros Autores: Heckler,Gláucia Thomas, Fong,Kenneth, Lai-Cheong,Joey, McGrath,John
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Anais brasileiros de dermatologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800212
Resumo: We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.
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spelling Sporadic Kindler Syndrome with a novel mutationDNA mutational analysisEpidermolysis bullosaPhotosensitivity disordersWe report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.Sociedade Brasileira de Dermatologia2013-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800212Anais Brasileiros de Dermatologia v.88 n.6 suppl.1 2013reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20132173info:eu-repo/semantics/openAccessAlmeida Jr,Hiram Larangeira deHeckler,Gláucia ThomasFong,KennethLai-Cheong,JoeyMcGrath,Johneng2014-06-16T00:00:00Zoai:scielo:S0365-05962013000800212Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2014-06-16T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Sporadic Kindler Syndrome with a novel mutation
title Sporadic Kindler Syndrome with a novel mutation
spellingShingle Sporadic Kindler Syndrome with a novel mutation
Almeida Jr,Hiram Larangeira de
DNA mutational analysis
Epidermolysis bullosa
Photosensitivity disorders
title_short Sporadic Kindler Syndrome with a novel mutation
title_full Sporadic Kindler Syndrome with a novel mutation
title_fullStr Sporadic Kindler Syndrome with a novel mutation
title_full_unstemmed Sporadic Kindler Syndrome with a novel mutation
title_sort Sporadic Kindler Syndrome with a novel mutation
author Almeida Jr,Hiram Larangeira de
author_facet Almeida Jr,Hiram Larangeira de
Heckler,Gláucia Thomas
Fong,Kenneth
Lai-Cheong,Joey
McGrath,John
author_role author
author2 Heckler,Gláucia Thomas
Fong,Kenneth
Lai-Cheong,Joey
McGrath,John
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Almeida Jr,Hiram Larangeira de
Heckler,Gláucia Thomas
Fong,Kenneth
Lai-Cheong,Joey
McGrath,John
dc.subject.por.fl_str_mv DNA mutational analysis
Epidermolysis bullosa
Photosensitivity disorders
topic DNA mutational analysis
Epidermolysis bullosa
Photosensitivity disorders
description We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.
publishDate 2013
dc.date.none.fl_str_mv 2013-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800212
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800212
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20132173
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.88 n.6 suppl.1 2013
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
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