Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs

Detalhes bibliográficos
Autor(a) principal: Pereira,Luciana Baptista
Data de Publicação: 2018
Outros Autores: Valente,Neusa Yuriko Sakai, Rocha,Vanessa Barreto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Anais brasileiros de dermatologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000100135
Resumo: Abstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.
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spelling Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairsGeneticsIchthyosisTrichothiodystrophy SyndromesAbstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.Sociedade Brasileira de Dermatologia2018-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000100135Anais Brasileiros de Dermatologia v.93 n.1 2018reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20187727info:eu-repo/semantics/openAccessPereira,Luciana BaptistaValente,Neusa Yuriko SakaiRocha,Vanessa Barretoeng2018-03-29T00:00:00Zoai:scielo:S0365-05962018000100135Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2018-03-29T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
title Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
spellingShingle Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
Pereira,Luciana Baptista
Genetics
Ichthyosis
Trichothiodystrophy Syndromes
title_short Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
title_full Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
title_fullStr Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
title_full_unstemmed Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
title_sort Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
author Pereira,Luciana Baptista
author_facet Pereira,Luciana Baptista
Valente,Neusa Yuriko Sakai
Rocha,Vanessa Barreto
author_role author
author2 Valente,Neusa Yuriko Sakai
Rocha,Vanessa Barreto
author2_role author
author
dc.contributor.author.fl_str_mv Pereira,Luciana Baptista
Valente,Neusa Yuriko Sakai
Rocha,Vanessa Barreto
dc.subject.por.fl_str_mv Genetics
Ichthyosis
Trichothiodystrophy Syndromes
topic Genetics
Ichthyosis
Trichothiodystrophy Syndromes
description Abstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.
publishDate 2018
dc.date.none.fl_str_mv 2018-02-01
dc.type.driver.fl_str_mv 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 http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000100135
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000100135
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20187727
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.93 n.1 2018
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
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