Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.29021/spdv.77.1.1013 |
Resumo: | Introduction: Congenital ichthyoses are a heterogeneous group of hereditary genetic disorders that occur due to a defective keratinization and consequent disruption of the skin barrier function. Although rare, they are presented as a diagnostic and therapeutic challenge. This study aimed to characterize clinically and genotypically the cases of non-syndromic congenital ichthyoses and to evaluate possible genotype-phenotype relation based on the most recent data in the literature.Methods: We performed a retrospective study in which all cases with clinical diagnosis and genetic confirmation of non-syndromic congenital ichthyoses were included in the Pediatric Dermatology Multidisciplinary Consultation of Hospital D. Estefânia of the Centro Hospitalar e Universitário de Lisboa Central.Results: A total of 11 patients aged between 20 months and 16 years were analyzed. Four had the X-linked recessive form with a mutation in the steroid-sulphatase gene, three of which typically manifested by the appearance at birth of generalized gray polygonal desquamation and one with milder manifestations of xerosis and eczema. The remaining seven patients had an autosomal recessive form, four of them mutated in the TGM1 gene, two in ALOX12B and one in CYP4F22. Regarding the evolution and prognosis, the same mutated gene was responsible for a broad spectrum of clinical manifestations, emphasizing the difficulty in establishing a genotype-phenotype relationship for these patients.Conclusion: Advances in genetics have been fundamental for better compression of the pathophysiology and clinical evolution of congenital ichthyoses. However, given the broad phenotypic spectrum associated with a mutation in the same gene, the establishment of a genotype-phenotype relationship, that would allow a correct prognosis, is not always possible. Although rare, the authors emphasize the importance of further studies in order to improve the quality of life of patients with these genodermatoses. |
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Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa CentralIctioses Congénitas: Série de 11 Casos da Consulta Multidisciplinar de Dermatologia Pediátrica, Centro Hospitalar e Universitário de Lisboa CentralIchthyosiform ErythrodermaCongenitalIchthyosisLamellarSkin DiseasesGeneticSteryl-SulfataseDermatopatias GenéticasEritrodermia Ictiosiforme CongénitaEsteril-SulfataseIctiose LamelarIntroduction: Congenital ichthyoses are a heterogeneous group of hereditary genetic disorders that occur due to a defective keratinization and consequent disruption of the skin barrier function. Although rare, they are presented as a diagnostic and therapeutic challenge. This study aimed to characterize clinically and genotypically the cases of non-syndromic congenital ichthyoses and to evaluate possible genotype-phenotype relation based on the most recent data in the literature.Methods: We performed a retrospective study in which all cases with clinical diagnosis and genetic confirmation of non-syndromic congenital ichthyoses were included in the Pediatric Dermatology Multidisciplinary Consultation of Hospital D. Estefânia of the Centro Hospitalar e Universitário de Lisboa Central.Results: A total of 11 patients aged between 20 months and 16 years were analyzed. Four had the X-linked recessive form with a mutation in the steroid-sulphatase gene, three of which typically manifested by the appearance at birth of generalized gray polygonal desquamation and one with milder manifestations of xerosis and eczema. The remaining seven patients had an autosomal recessive form, four of them mutated in the TGM1 gene, two in ALOX12B and one in CYP4F22. Regarding the evolution and prognosis, the same mutated gene was responsible for a broad spectrum of clinical manifestations, emphasizing the difficulty in establishing a genotype-phenotype relationship for these patients.Conclusion: Advances in genetics have been fundamental for better compression of the pathophysiology and clinical evolution of congenital ichthyoses. However, given the broad phenotypic spectrum associated with a mutation in the same gene, the establishment of a genotype-phenotype relationship, that would allow a correct prognosis, is not always possible. Although rare, the authors emphasize the importance of further studies in order to improve the quality of life of patients with these genodermatoses.Introdução: As ictioses são um grupo heterogéneo de distúrbios genéticos hereditários que ocorrem devido a um defeito da queratinização e consequente disrupção da função de barreira cutânea. Embora raras, elas apresentam-se como um desafio clínico, em particular face ao correto diagnóstico e opções terapêuticas. Este estudo teve como objectivo principal caracterizar clinica e genotipicamente os casos de ictioses congénitas não sindrómicas e avaliar possível relação genótipo-fenótipo face aos dados mais recentes na literatura.Métodos: Realizámos um estudo retrospetivo onde foram incluídos todos os casos com diagnóstico clinico e confirmação genética de ictioses congénitas não sindrómicas da Consulta Multidisciplinar de Dermatologia Pediátrica do Hospital D. Estefânia do Centro Hospitalar e Universitário de Lisboa Central.Resultados: Foi analisado um total de 11 doentes com idades compreendidas entre os 20 meses e os 16 anos de idade. Quatro tinham a forma recessiva ligada ao X com mutação no gene da esteróide-sulfatase sendo que três deles manifestaram-se tipicamente pelo aparecimento ao nascimento de descamação poligonal cinza-acastanhada de distribuição generalizada e um com manifestações mais ligeiras compatíveis de xerose e eczema. Os restantes sete doentes tinham uma forma autossómica recessiva, quatro deles com mutação no gene TGM1, dois no ALOX12B e um no CYP4F22. Relativamente à evolução e prognóstico, verificou-se que o mesmo gene mutado foi responsável por um amplo espectro de manifestações clínicas, confirmando a dificuldade em estabelecer uma relação genótipo-fenótipo para estes doentes.Conclusão: Os avanços na área da genética têm sido fundamentais para a melhor compressão da fisiopatologia e evolução clínica das ictioses congénitas. No entanto, dado o amplo espectro fenotípico associado a uma mutação no mesmo gene, o estabelecimento de uma relação genótipo-fenótipo que possibilitaria um correto prognóstico, nem sempre é possível. Embora raras, os autores salientam a importância de mais estudos de modo a melhorar a qualidade de vida dos doentes com estas genodermatoses.Sociedade Portuguesa de Dermatologia e Venereologia2019-03-26T00:00:00Zjournal articleinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://doi.org/10.29021/spdv.77.1.1013oai:ojs.revista.spdv.com.pt:article/1013Journal of the Portuguese Society of Dermatology and Venereology; Vol 77 No 1 (2019): January / March; 25-32Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 77 n. 1 (2019): Janeiro / Março; 25-322182-24092182-2395reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://revista.spdv.com.pt/index.php/spdv/article/view/1013https://doi.org/10.29021/spdv.77.1.1013https://revista.spdv.com.pt/index.php/spdv/article/view/1013/615Borges, Ana SofiaCordeiro, A.Brasileiro, AnaPaiva Lopes, Maria Joãoinfo:eu-repo/semantics/openAccess2022-10-06T12:35:10Zoai:ojs.revista.spdv.com.pt:article/1013Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:11:09.063669Repositório 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 |
Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central Ictioses Congénitas: Série de 11 Casos da Consulta Multidisciplinar de Dermatologia Pediátrica, Centro Hospitalar e Universitário de Lisboa Central |
title |
Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central |
spellingShingle |
Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central Borges, Ana Sofia Ichthyosiform Erythroderma Congenital Ichthyosis Lamellar Skin Diseases Genetic Steryl-Sulfatase Dermatopatias Genéticas Eritrodermia Ictiosiforme Congénita Esteril-Sulfatase Ictiose Lamelar |
title_short |
Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central |
title_full |
Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central |
title_fullStr |
Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central |
title_full_unstemmed |
Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central |
title_sort |
Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central |
author |
Borges, Ana Sofia |
author_facet |
Borges, Ana Sofia Cordeiro, A. Brasileiro, Ana Paiva Lopes, Maria João |
author_role |
author |
author2 |
Cordeiro, A. Brasileiro, Ana Paiva Lopes, Maria João |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Borges, Ana Sofia Cordeiro, A. Brasileiro, Ana Paiva Lopes, Maria João |
dc.subject.por.fl_str_mv |
Ichthyosiform Erythroderma Congenital Ichthyosis Lamellar Skin Diseases Genetic Steryl-Sulfatase Dermatopatias Genéticas Eritrodermia Ictiosiforme Congénita Esteril-Sulfatase Ictiose Lamelar |
topic |
Ichthyosiform Erythroderma Congenital Ichthyosis Lamellar Skin Diseases Genetic Steryl-Sulfatase Dermatopatias Genéticas Eritrodermia Ictiosiforme Congénita Esteril-Sulfatase Ictiose Lamelar |
description |
Introduction: Congenital ichthyoses are a heterogeneous group of hereditary genetic disorders that occur due to a defective keratinization and consequent disruption of the skin barrier function. Although rare, they are presented as a diagnostic and therapeutic challenge. This study aimed to characterize clinically and genotypically the cases of non-syndromic congenital ichthyoses and to evaluate possible genotype-phenotype relation based on the most recent data in the literature.Methods: We performed a retrospective study in which all cases with clinical diagnosis and genetic confirmation of non-syndromic congenital ichthyoses were included in the Pediatric Dermatology Multidisciplinary Consultation of Hospital D. Estefânia of the Centro Hospitalar e Universitário de Lisboa Central.Results: A total of 11 patients aged between 20 months and 16 years were analyzed. Four had the X-linked recessive form with a mutation in the steroid-sulphatase gene, three of which typically manifested by the appearance at birth of generalized gray polygonal desquamation and one with milder manifestations of xerosis and eczema. The remaining seven patients had an autosomal recessive form, four of them mutated in the TGM1 gene, two in ALOX12B and one in CYP4F22. Regarding the evolution and prognosis, the same mutated gene was responsible for a broad spectrum of clinical manifestations, emphasizing the difficulty in establishing a genotype-phenotype relationship for these patients.Conclusion: Advances in genetics have been fundamental for better compression of the pathophysiology and clinical evolution of congenital ichthyoses. However, given the broad phenotypic spectrum associated with a mutation in the same gene, the establishment of a genotype-phenotype relationship, that would allow a correct prognosis, is not always possible. Although rare, the authors emphasize the importance of further studies in order to improve the quality of life of patients with these genodermatoses. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-03-26T00:00:00Z |
dc.type.driver.fl_str_mv |
journal article 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 |
https://doi.org/10.29021/spdv.77.1.1013 oai:ojs.revista.spdv.com.pt:article/1013 |
url |
https://doi.org/10.29021/spdv.77.1.1013 |
identifier_str_mv |
oai:ojs.revista.spdv.com.pt:article/1013 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://revista.spdv.com.pt/index.php/spdv/article/view/1013 https://doi.org/10.29021/spdv.77.1.1013 https://revista.spdv.com.pt/index.php/spdv/article/view/1013/615 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Dermatologia e Venereologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Dermatologia e Venereologia |
dc.source.none.fl_str_mv |
Journal of the Portuguese Society of Dermatology and Venereology; Vol 77 No 1 (2019): January / March; 25-32 Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 77 n. 1 (2019): Janeiro / Março; 25-32 2182-2409 2182-2395 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) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1817554062777778176 |