Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
Autor(a) principal: | |
---|---|
Data de Publicação: | 2018 |
Outros Autores: | , |
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. |
id |
SBD-1_0971275fc320bf2c115606b4d97ec44f |
---|---|
oai_identifier_str |
oai:scielo:S0365-05962018000100135 |
network_acronym_str |
SBD-1 |
network_name_str |
Anais brasileiros de dermatologia (Online) |
repository_id_str |
|
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 |
_version_ |
1752126422606938112 |