Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic Clue

Detalhes bibliográficos
Autor(a) principal: Ferreira,Marli
Data de Publicação: 2021
Outros Autores: Ferreira,Inês Henriques, Correia,João Araújo
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-671X2021000400035
Resumo: Abstract Described for the first time in 1974, aquagenic wrinkling of the palms (AWP) is an entity characterized by pruritic wrinkling of the palms with associated oedema after brief contact with water. It was first noticed in children diagnosed with cystic fibrosis and in the last years the association between these conditions has been established. We report a case of a 21-year-old Caucasian woman with history of chronic rhinosinusitis and with a clinical diagnosis of AWP. The conducted study revealed a heterozygous mutation for p.Phe508del in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. AWP might represent a feature of CFTR mutation and its identifica-tion should lead to a full genetic test counselling.
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spelling Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic ClueCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorKeratoderma, PalmoplantarMutationAbstract Described for the first time in 1974, aquagenic wrinkling of the palms (AWP) is an entity characterized by pruritic wrinkling of the palms with associated oedema after brief contact with water. It was first noticed in children diagnosed with cystic fibrosis and in the last years the association between these conditions has been established. We report a case of a 21-year-old Caucasian woman with history of chronic rhinosinusitis and with a clinical diagnosis of AWP. The conducted study revealed a heterozygous mutation for p.Phe508del in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. AWP might represent a feature of CFTR mutation and its identifica-tion should lead to a full genetic test counselling.Sociedade Portuguesa de Medicina Interna2021-12-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-671X2021000400035Medicina Interna v.28 n.4 2021reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-671X2021000400035Ferreira,MarliFerreira,Inês HenriquesCorreia,João Araújoinfo:eu-repo/semantics/openAccess2024-02-06T17:08:35Zoai:scielo:S0872-671X2021000400035Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:20:55.415180Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic Clue
title Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic Clue
spellingShingle Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic Clue
Ferreira,Marli
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Keratoderma, Palmoplantar
Mutation
title_short Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic Clue
title_full Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic Clue
title_fullStr Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic Clue
title_full_unstemmed Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic Clue
title_sort Aquagenic Wrinkling of the Palms and Mutations in the Cystic Fibrosis Gene: A Diagnostic Clue
author Ferreira,Marli
author_facet Ferreira,Marli
Ferreira,Inês Henriques
Correia,João Araújo
author_role author
author2 Ferreira,Inês Henriques
Correia,João Araújo
author2_role author
author
dc.contributor.author.fl_str_mv Ferreira,Marli
Ferreira,Inês Henriques
Correia,João Araújo
dc.subject.por.fl_str_mv Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Keratoderma, Palmoplantar
Mutation
topic Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Keratoderma, Palmoplantar
Mutation
description Abstract Described for the first time in 1974, aquagenic wrinkling of the palms (AWP) is an entity characterized by pruritic wrinkling of the palms with associated oedema after brief contact with water. It was first noticed in children diagnosed with cystic fibrosis and in the last years the association between these conditions has been established. We report a case of a 21-year-old Caucasian woman with history of chronic rhinosinusitis and with a clinical diagnosis of AWP. The conducted study revealed a heterozygous mutation for p.Phe508del in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. AWP might represent a feature of CFTR mutation and its identifica-tion should lead to a full genetic test counselling.
publishDate 2021
dc.date.none.fl_str_mv 2021-12-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-671X2021000400035
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-671X2021000400035
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-671X2021000400035
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 Portuguesa de Medicina Interna
publisher.none.fl_str_mv Sociedade Portuguesa de Medicina Interna
dc.source.none.fl_str_mv Medicina Interna v.28 n.4 2021
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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