Cutaneous mosaicisms: concepts, patterns and classifications

Detalhes bibliográficos
Autor(a) principal: Kouzak,Samara Silva
Data de Publicação: 2013
Outros Autores: Mendes,Marcela Sena Teixeira, Costa,Izelda Maria Carvalho
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=S0365-05962013000400507
Resumo: A mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the clinical expressions of these disorders. The main event which allows the existence of mosaicism is a genetic mutation, either structural or functional. Cutaneous mosaicisms usually manifest by specific patterns on the skin and the archetypic pattern is the system of Blaschko lines, but others include checkerboard, phylloid, large patches without midline separation and lateralization. Since 1901, when Blaschko lines were first described, the study of mosasicism has helped to elucidate the behavior of numerous genetic diseases, generating therapeutic perspectives for these pathologies, including the promising gene therapy.
id SBD-1_2cbcb8da7e09b96743c8aec7673eb2b9
oai_identifier_str oai:scielo:S0365-05962013000400507
network_acronym_str SBD-1
network_name_str Anais brasileiros de dermatologia (Online)
repository_id_str
spelling Cutaneous mosaicisms: concepts, patterns and classificationsFocal dermal hypoplasiaIncontinentia pigmentiLoss of heterozygosityMosaicismNevusA mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the clinical expressions of these disorders. The main event which allows the existence of mosaicism is a genetic mutation, either structural or functional. Cutaneous mosaicisms usually manifest by specific patterns on the skin and the archetypic pattern is the system of Blaschko lines, but others include checkerboard, phylloid, large patches without midline separation and lateralization. Since 1901, when Blaschko lines were first described, the study of mosasicism has helped to elucidate the behavior of numerous genetic diseases, generating therapeutic perspectives for these pathologies, including the promising gene therapy.Sociedade Brasileira de Dermatologia2013-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000400507Anais Brasileiros de Dermatologia v.88 n.4 2013reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20132015info:eu-repo/semantics/openAccessKouzak,Samara SilvaMendes,Marcela Sena TeixeiraCosta,Izelda Maria Carvalhoeng2015-10-19T00:00:00Zoai:scielo:S0365-05962013000400507Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2015-10-19T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Cutaneous mosaicisms: concepts, patterns and classifications
title Cutaneous mosaicisms: concepts, patterns and classifications
spellingShingle Cutaneous mosaicisms: concepts, patterns and classifications
Kouzak,Samara Silva
Focal dermal hypoplasia
Incontinentia pigmenti
Loss of heterozygosity
Mosaicism
Nevus
title_short Cutaneous mosaicisms: concepts, patterns and classifications
title_full Cutaneous mosaicisms: concepts, patterns and classifications
title_fullStr Cutaneous mosaicisms: concepts, patterns and classifications
title_full_unstemmed Cutaneous mosaicisms: concepts, patterns and classifications
title_sort Cutaneous mosaicisms: concepts, patterns and classifications
author Kouzak,Samara Silva
author_facet Kouzak,Samara Silva
Mendes,Marcela Sena Teixeira
Costa,Izelda Maria Carvalho
author_role author
author2 Mendes,Marcela Sena Teixeira
Costa,Izelda Maria Carvalho
author2_role author
author
dc.contributor.author.fl_str_mv Kouzak,Samara Silva
Mendes,Marcela Sena Teixeira
Costa,Izelda Maria Carvalho
dc.subject.por.fl_str_mv Focal dermal hypoplasia
Incontinentia pigmenti
Loss of heterozygosity
Mosaicism
Nevus
topic Focal dermal hypoplasia
Incontinentia pigmenti
Loss of heterozygosity
Mosaicism
Nevus
description A mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the clinical expressions of these disorders. The main event which allows the existence of mosaicism is a genetic mutation, either structural or functional. Cutaneous mosaicisms usually manifest by specific patterns on the skin and the archetypic pattern is the system of Blaschko lines, but others include checkerboard, phylloid, large patches without midline separation and lateralization. Since 1901, when Blaschko lines were first described, the study of mosasicism has helped to elucidate the behavior of numerous genetic diseases, generating therapeutic perspectives for these pathologies, including the promising gene therapy.
publishDate 2013
dc.date.none.fl_str_mv 2013-08-01
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=S0365-05962013000400507
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000400507
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20132015
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.4 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
_version_ 1752126418703089664

Registros relacionados