De Sanctis-Cacchione Syndrome in a female infant - Case report

Detalhes bibliográficos
Autor(a) principal: Caldas,Amadeus Lima Rocha
Data de Publicação: 2013
Outros Autores: Rodrigues,Mecciene Mendes
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=S0365-05962013000600979
Resumo: The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.
id SBD-1_46b9c68597aedf25aba639b90ebf77ab
oai_identifier_str oai:scielo:S0365-05962013000600979
network_acronym_str SBD-1
network_name_str Anais brasileiros de dermatologia (Online)
repository_id_str
spelling De Sanctis-Cacchione Syndrome in a female infant - Case reportDNA repairDNA Repair-Deficiency DisordersXeroderma pigmentosumXeroderma pigmentosum group A proteinThe De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.Sociedade Brasileira de Dermatologia2013-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000600979Anais Brasileiros de Dermatologia v.88 n.6 2013reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20132844info:eu-repo/semantics/openAccessCaldas,Amadeus Lima RochaRodrigues,Mecciene Mendeseng2014-08-29T00:00:00Zoai:scielo:S0365-05962013000600979Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2014-08-29T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv De Sanctis-Cacchione Syndrome in a female infant - Case report
title De Sanctis-Cacchione Syndrome in a female infant - Case report
spellingShingle De Sanctis-Cacchione Syndrome in a female infant - Case report
Caldas,Amadeus Lima Rocha
DNA repair
DNA Repair-Deficiency Disorders
Xeroderma pigmentosum
Xeroderma pigmentosum group A protein
title_short De Sanctis-Cacchione Syndrome in a female infant - Case report
title_full De Sanctis-Cacchione Syndrome in a female infant - Case report
title_fullStr De Sanctis-Cacchione Syndrome in a female infant - Case report
title_full_unstemmed De Sanctis-Cacchione Syndrome in a female infant - Case report
title_sort De Sanctis-Cacchione Syndrome in a female infant - Case report
author Caldas,Amadeus Lima Rocha
author_facet Caldas,Amadeus Lima Rocha
Rodrigues,Mecciene Mendes
author_role author
author2 Rodrigues,Mecciene Mendes
author2_role author
dc.contributor.author.fl_str_mv Caldas,Amadeus Lima Rocha
Rodrigues,Mecciene Mendes
dc.subject.por.fl_str_mv DNA repair
DNA Repair-Deficiency Disorders
Xeroderma pigmentosum
Xeroderma pigmentosum group A protein
topic DNA repair
DNA Repair-Deficiency Disorders
Xeroderma pigmentosum
Xeroderma pigmentosum group A protein
description The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.
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=S0365-05962013000600979
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000600979
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20132844
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 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_ 1752126419090014208

Registros relacionados