Congenital Ichthyoses: 11 Cases from the Pediatric Dermatology Multidisciplinary Consultation of the Centro Hospitalar e Universitário de Lisboa Central

Detalhes bibliográficos
Autor(a) principal: Borges, Ana Sofia
Data de Publicação: 2019
Outros Autores: Cordeiro, A., Brasileiro, Ana, Paiva Lopes, Maria João
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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spelling 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
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oai:ojs.revista.spdv.com.pt:article/1013
url https://doi.org/10.29021/spdv.77.1.1013
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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
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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
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