Ictiosis arlequín, una genodermatosis devastadora

Autores:
Carvajalino, Felisa B
Peña, Laura F
Tipo de recurso:
Article of journal
Fecha de publicación:
2018
Institución:
Fundación Universitaria de Ciencias de la Salud - FUCS
Repositorio:
Repositorio Digital Institucional ReDi
Idioma:
spa
OAI Identifier:
oai:repositorio.fucsalud.edu.co:001/2101
Acceso en línea:
https://repositorio.fucsalud.edu.co/handle/001/2101
https://doi.org/10.31260/RepertMedCir.v27.n1.2018.132
Palabra clave:
ictiosis arlequín
genodermatosis
autopsias
harlequin ichthyosis
genodermatosis
autopsies
Rights
openAccess
License
Fundación Universitaria de Ciencias de la Salud - FUCS - 2018
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spelling Carvajalino, Felisa Bbc9794ba96932c36e0a320d3e5495e91300Peña, Laura F808c787060d3a3ffa9c8b7e9113e36283002018-04-26 00:00:002022-02-21T20:34:10Z2018-04-262018-04-26 00:00:002022-02-21T20:34:10ZSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la SaludFundación Universitaria de Ciencias de la Salud - FUCS - 2018info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/132ictiosis arlequíngenodermatosisautopsiasharlequin ichthyosisgenodermatosisautopsiesIctiosis arlequín, una genodermatosis devastadoraHarlequin Ichthyosis, one devastating genodermatosisapplication/pdftext/htmlapplication/epub+zipapplication/xmlArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.v27.n1.2018.1320121-7372https://repositorio.fucsalud.edu.co/handle/001/21012462-991Xhttps://doi.org/10.31260/RepertMedCir.v27.n1.2018.132spaSalehin S, Azizimoghadam A, Abdollahimohammad A, Babaeipour- Divshali M. Harlequin ichthyosis: Case report. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences. 2013;18(11):1004-5. Epub 2014/02/13. 2. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. American journal of human genetics. 2005;76(5):794-803. Epub 2005/03/10. 3. Harvey HB, Shaw MG, Morrell DS. Perinatal management of harlequin ichthyosis: a case report and literature review. Journal of perinatology: official journal of the California Perinatal Association. 2010;30(1):66-72. Epub 2009/12/30. 4. Richard G. Autosomal Recessive Congenital Ichthyosis. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA)1993. 5. Holden S, Ahuja S, Ogilvy-Stuart A, Firth HV, Lees C. Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. Prenatal diagnosis. 2007;27(6):566-7. Epub 2007/03/28. 6. Hazuku T, Yamada K, Imaizumi M, Ikebe T, Shinoda K, Nakatsuka K, et al. Unusual protrusion of conjunctiva in two neonates with harlequin ichthyosis. Case reports in ophthalmology. 2011;2(1):73-7. Epub 2011/04/09. 7. Prendiville J. Harlequin Ichthyosis Medication. Medscape; 2016 [cited 2016 septiembre 4]; Available from: https://emedicine. medscape.com/article/1111503-medication. 8. Rajpopat S, Moss C, Mellerio J, Vahlquist A, Ganemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Archives of dermatology. 2011;147(6):681-6. Epub 2011/02/23. 9. Craiglow BG. Ichthyosis in the newborn. Seminars in perinatology. 2013;37(1):26-31. Epub 2013/02/20.https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/132/111https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/132/129https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/132/143https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/132/161Núm. 1 , Año 2018 : Enero – Abril4614427Revista Repertorio de Medicina y CirugíaPublicationOREORE.xmltext/xml2503https://repositorio.fucsalud.edu.co/bitstreams/9103656d-f2e4-4de1-a9a5-8c25bc600c24/downloadf5eda7086adf7dc1f25cee57df1fc9f7MD51001/2101oai:repositorio.fucsalud.edu.co:001/21012024-02-02 13:06:37.132https://creativecommons.org/licenses/by-nc-sa/4.0/Fundación Universitaria de Ciencias de la Salud - FUCS - 2018metadata.onlyhttps://repositorio.fucsalud.edu.coRepositorio Digital de la Fundación Universitaria de Ciencias de la Saludredi@fucsalud.edu.co
dc.title.spa.fl_str_mv Ictiosis arlequín, una genodermatosis devastadora
dc.title.translated.eng.fl_str_mv Harlequin Ichthyosis, one devastating genodermatosis
title Ictiosis arlequín, una genodermatosis devastadora
spellingShingle Ictiosis arlequín, una genodermatosis devastadora
ictiosis arlequín
genodermatosis
autopsias
harlequin ichthyosis
genodermatosis
autopsies
title_short Ictiosis arlequín, una genodermatosis devastadora
title_full Ictiosis arlequín, una genodermatosis devastadora
title_fullStr Ictiosis arlequín, una genodermatosis devastadora
title_full_unstemmed Ictiosis arlequín, una genodermatosis devastadora
title_sort Ictiosis arlequín, una genodermatosis devastadora
dc.creator.fl_str_mv Carvajalino, Felisa B
Peña, Laura F
dc.contributor.author.spa.fl_str_mv Carvajalino, Felisa B
Peña, Laura F
dc.subject.spa.fl_str_mv ictiosis arlequín
genodermatosis
autopsias
topic ictiosis arlequín
genodermatosis
autopsias
harlequin ichthyosis
genodermatosis
autopsies
dc.subject.eng.fl_str_mv harlequin ichthyosis
genodermatosis
autopsies
publishDate 2018
dc.date.accessioned.none.fl_str_mv 2018-04-26 00:00:00
2022-02-21T20:34:10Z
dc.date.issued.none.fl_str_mv 2018-04-26
dc.date.available.none.fl_str_mv 2018-04-26 00:00:00
2022-02-21T20:34:10Z
dc.type.spa.fl_str_mv Artículo de revista
dc.type.eng.fl_str_mv Journal article
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dc.identifier.eissn.none.fl_str_mv 2462-991X
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https://doi.org/10.31260/RepertMedCir.v27.n1.2018.132
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dc.relation.references.spa.fl_str_mv Salehin S, Azizimoghadam A, Abdollahimohammad A, Babaeipour- Divshali M. Harlequin ichthyosis: Case report. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences. 2013;18(11):1004-5. Epub 2014/02/13. 2. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. American journal of human genetics. 2005;76(5):794-803. Epub 2005/03/10. 3. Harvey HB, Shaw MG, Morrell DS. Perinatal management of harlequin ichthyosis: a case report and literature review. Journal of perinatology: official journal of the California Perinatal Association. 2010;30(1):66-72. Epub 2009/12/30. 4. Richard G. Autosomal Recessive Congenital Ichthyosis. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA)1993. 5. Holden S, Ahuja S, Ogilvy-Stuart A, Firth HV, Lees C. Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. Prenatal diagnosis. 2007;27(6):566-7. Epub 2007/03/28. 6. Hazuku T, Yamada K, Imaizumi M, Ikebe T, Shinoda K, Nakatsuka K, et al. Unusual protrusion of conjunctiva in two neonates with harlequin ichthyosis. Case reports in ophthalmology. 2011;2(1):73-7. Epub 2011/04/09. 7. Prendiville J. Harlequin Ichthyosis Medication. Medscape; 2016 [cited 2016 septiembre 4]; Available from: https://emedicine. medscape.com/article/1111503-medication. 8. Rajpopat S, Moss C, Mellerio J, Vahlquist A, Ganemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Archives of dermatology. 2011;147(6):681-6. Epub 2011/02/23. 9. Craiglow BG. Ichthyosis in the newborn. Seminars in perinatology. 2013;37(1):26-31. Epub 2013/02/20.
dc.relation.bitstream.none.fl_str_mv https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/132/111
https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/132/129
https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/132/143
https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/132/161
dc.relation.citationedition.spa.fl_str_mv Núm. 1 , Año 2018 : Enero – Abril
dc.relation.citationendpage.none.fl_str_mv 46
dc.relation.citationissue.spa.fl_str_mv 1
dc.relation.citationstartpage.none.fl_str_mv 44
dc.relation.citationvolume.spa.fl_str_mv 27
dc.relation.ispartofjournal.spa.fl_str_mv Revista Repertorio de Medicina y Cirugía
dc.rights.spa.fl_str_mv Fundación Universitaria de Ciencias de la Salud - FUCS - 2018
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