X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczema
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/2787 |
Resumo: | X-linked Hypohidrotic Ectodermal Dysplasia (XHED) is an inherited disorder that involves defective development of tissues derived from embryonic ectoderm and it is generally suspected by the triad of hypohidrosis, hypotrichosis and hypodontia. We report a four-year-old boy with a persistent and severe eczema, anodontia, a sparse, thin and blonde hair, periorbital wrinkling with hyperpigmentation and absence of sweating. Laboratory results showed elevation of total serum IgE and IgE specific to house dust mites and grass pollen. Skin biopsy revealed absence of eccrine and sebaceous glands and hair follicles. The genetic molecular study disclosed a c.463C>T (p.Arg155Cys) mutation of the EDA1 gene, consistent with X-linked HED. Although XHED has a favorable prognosis, eczema is a major problem and the eczematous characteristics of patient’s skin resemble those of atopic dermatitis. Ceramide profile, reduction of natural moisturizing factors due to hypohidrosis and skin barrier dysfunction elicited by airborne proteins likely contribute to persistent and difficult-to-control AD-like eczema. As a consequence of the rarity of the disease, obtaining a significant number of clinical studies to clarify and validate the pathways involved in skin barrier dysfunction and the consequent eczematous lesions in HED patients will probably remain a challenge. |
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X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczemaDisplasia Ectodérmica Hipohidrótica ligada ao X e eczema atópico - relato de um caso e discussão sobre os mecanismos do eczemaAtopic dermatitisdevelopmental defectsectodermal dysplasiaX-linked Hypohidrotic Ectodermal Dysplasia (XHED) is an inherited disorder that involves defective development of tissues derived from embryonic ectoderm and it is generally suspected by the triad of hypohidrosis, hypotrichosis and hypodontia. We report a four-year-old boy with a persistent and severe eczema, anodontia, a sparse, thin and blonde hair, periorbital wrinkling with hyperpigmentation and absence of sweating. Laboratory results showed elevation of total serum IgE and IgE specific to house dust mites and grass pollen. Skin biopsy revealed absence of eccrine and sebaceous glands and hair follicles. The genetic molecular study disclosed a c.463C>T (p.Arg155Cys) mutation of the EDA1 gene, consistent with X-linked HED. Although XHED has a favorable prognosis, eczema is a major problem and the eczematous characteristics of patient’s skin resemble those of atopic dermatitis. Ceramide profile, reduction of natural moisturizing factors due to hypohidrosis and skin barrier dysfunction elicited by airborne proteins likely contribute to persistent and difficult-to-control AD-like eczema. As a consequence of the rarity of the disease, obtaining a significant number of clinical studies to clarify and validate the pathways involved in skin barrier dysfunction and the consequent eczematous lesions in HED patients will probably remain a challenge.Centro Hospitalar do PortoRepositório Científico do Centro Hospitalar Universitário de Santo AntónioMoreira, CatarinaDuarte, Ana FilipaAzevedo, FilomenaMota, Alberto2023-10-10T10:37:17Z2017-122017-12-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2787engNascer e Crescer – Birth and Growth Medical Journal 2017; 26(4): 251-42183-9417https://doi.org/10.25753/BirthGrowthMJ.v26.i4.10565info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T11:02:34Zoai:repositorio.chporto.pt:10400.16/2787Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:57.977498Repositório 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 |
X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczema Displasia Ectodérmica Hipohidrótica ligada ao X e eczema atópico - relato de um caso e discussão sobre os mecanismos do eczema |
title |
X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczema |
spellingShingle |
X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczema Moreira, Catarina Atopic dermatitis developmental defects ectodermal dysplasia |
title_short |
X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczema |
title_full |
X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczema |
title_fullStr |
X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczema |
title_full_unstemmed |
X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczema |
title_sort |
X – linked Hypohidrotic Ectodermal Dysplasia and atopic eczema – case report and discussion on mechanisms of eczema |
author |
Moreira, Catarina |
author_facet |
Moreira, Catarina Duarte, Ana Filipa Azevedo, Filomena Mota, Alberto |
author_role |
author |
author2 |
Duarte, Ana Filipa Azevedo, Filomena Mota, Alberto |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
Moreira, Catarina Duarte, Ana Filipa Azevedo, Filomena Mota, Alberto |
dc.subject.por.fl_str_mv |
Atopic dermatitis developmental defects ectodermal dysplasia |
topic |
Atopic dermatitis developmental defects ectodermal dysplasia |
description |
X-linked Hypohidrotic Ectodermal Dysplasia (XHED) is an inherited disorder that involves defective development of tissues derived from embryonic ectoderm and it is generally suspected by the triad of hypohidrosis, hypotrichosis and hypodontia. We report a four-year-old boy with a persistent and severe eczema, anodontia, a sparse, thin and blonde hair, periorbital wrinkling with hyperpigmentation and absence of sweating. Laboratory results showed elevation of total serum IgE and IgE specific to house dust mites and grass pollen. Skin biopsy revealed absence of eccrine and sebaceous glands and hair follicles. The genetic molecular study disclosed a c.463C>T (p.Arg155Cys) mutation of the EDA1 gene, consistent with X-linked HED. Although XHED has a favorable prognosis, eczema is a major problem and the eczematous characteristics of patient’s skin resemble those of atopic dermatitis. Ceramide profile, reduction of natural moisturizing factors due to hypohidrosis and skin barrier dysfunction elicited by airborne proteins likely contribute to persistent and difficult-to-control AD-like eczema. As a consequence of the rarity of the disease, obtaining a significant number of clinical studies to clarify and validate the pathways involved in skin barrier dysfunction and the consequent eczematous lesions in HED patients will probably remain a challenge. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-12 2017-12-01T00:00:00Z 2023-10-10T10:37:17Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.16/2787 |
url |
http://hdl.handle.net/10400.16/2787 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Nascer e Crescer – Birth and Growth Medical Journal 2017; 26(4): 251-4 2183-9417 https://doi.org/10.25753/BirthGrowthMJ.v26.i4.10565 |
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 |
Centro Hospitalar do Porto |
publisher.none.fl_str_mv |
Centro Hospitalar do Porto |
dc.source.none.fl_str_mv |
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 |
repository.mail.fl_str_mv |
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1799133650202132480 |