Incontinentia pigmenti

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Incontinentia Pigmenti is a rare genodermatosis, which is considered a hereditary alteration, linked to the X chromosome, with a dominant character. It occurs more frequently in women, and the main involvement is observed in tissues derived from the ectoderm, that is, it can be seen as abnormalities...

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Detalles Bibliográficos
Autores: Contreras Gala, Katherine Luisa, Ventura León, Alex, Espinoza Cenzano, Pol
Formato: artículo
Fecha de Publicación:2022
Institución:Universidad Nacional Mayor de San Marcos
Repositorio:Revistas - Universidad Nacional Mayor de San Marcos
Lenguaje:español
OAI Identifier:oai:ojs.csi.unmsm:article/22856
Enlace del recurso:https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/22856
Nivel de acceso:acceso abierto
Materia:Incontinencia Pigmentaria
Herencia
Mujeres
Hiperpigmentación
Perú
Incontinentia Pigmenti
Heredity
Females
Hyperpigmentation
Peru
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spelling Incontinentia pigmentiIncontinencia pigmentariaContreras Gala, Katherine LuisaVentura León, AlexEspinoza Cenzano, PolContreras Gala, Katherine LuisaVentura León, AlexEspinoza Cenzano, PolIncontinencia PigmentariaHerenciaMujeresHiperpigmentaciónPerúIncontinentia PigmentiHeredityFemalesHyperpigmentationPeruIncontinentia Pigmenti is a rare genodermatosis, which is considered a hereditary alteration, linked to the X chromosome, with a dominant character. It occurs more frequently in women, and the main involvement is observed in tissues derived from the ectoderm, that is, it can be seen as abnormalities in the skin, teeth, hair, eyes and nervous system. We report a case of incontinentia pigmenti with cutaneous manifestations in a male newborn is presented. The case was confirmed through two biopsies evaluated in the pathological anatomy service of the Cayetano Heredia Hospital. Due to the broad spectrum of clinical presentation of incontinence pigmenti, it is recommended to consider this entity in the differential diagnosis when we are faced with predominantly vesicular skin lesions that follow a distribution along Blaschko lines. Incontinentia pigmenti is a rare disease in our country, and its diagnosis requires an adequate clinicopathological correlation, and knowledge of the different phases of the disease. The timely and early diagnosis and recognition of the entity will prevent associated complications at the systemic level.  La incontinencia pigmentaria es una genodermatosis de rara presentación, que es considerada una alteración hereditaria, ligada al cromosoma X, con carácter dominante. Se presenta con mayor frecuencia en mujeres, y el compromiso principal se observa en tejidos derivados del ectodermo; es decir, puede evidenciarse como anormalidades en piel, dientes, pelos, ojos y sistema nervioso. Se presenta un caso de incontinencia pigmentaria con manifestaciones cutáneas en un recién nacido varón. El caso se confirmó a través de dos biopsias evaluadas en el servicio de anatomía patológica del Hospital Cayetano Heredia. Debido al espectro amplio de presentación clínica de incontinencia pigmentaria, se recomienda considerar a esta entidad en el diagnóstico diferencial cuando nos encontramos frente a lesiones cutáneas, predominantemente vesiculares y que siguen una distribución siguiendo las líneas de Blaschko. La incontinencia pigmentaria es una enfermedad infrecuente en nuestro país, y su diagnóstico requiere de una adecuada correlación clínico patológica, y del conocimiento de las distintas fases de la enfermedad. El diagnóstico y reconocimiento oportuno y temprano de la entidad permitirá prevenir complicaciones asociadas a nivel sistémico.Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana2022-07-27info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/2285610.15381/anales.v83i3.22856Anales de la Facultad de Medicina; Vol. 83 No. 3 (2022); 239-245Anales de la Facultad de Medicina; Vol. 83 Núm. 3 (2022); 239-2451609-94191025-5583reponame:Revistas - Universidad Nacional Mayor de San Marcosinstname:Universidad Nacional Mayor de San Marcosinstacron:UNMSMspahttps://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/22856/18445Derechos de autor 2022 Anales de la Facultad de Medicinahttp://creativecommons.org/licenses/by-nc-sa/4.0info:eu-repo/semantics/openAccessoai:ojs.csi.unmsm:article/228562022-10-10T12:43:16Z
dc.title.none.fl_str_mv Incontinentia pigmenti
Incontinencia pigmentaria
title Incontinentia pigmenti
spellingShingle Incontinentia pigmenti
Contreras Gala, Katherine Luisa
Incontinencia Pigmentaria
Herencia
Mujeres
Hiperpigmentación
Perú
Incontinentia Pigmenti
Heredity
Females
Hyperpigmentation
Peru
title_short Incontinentia pigmenti
title_full Incontinentia pigmenti
title_fullStr Incontinentia pigmenti
title_full_unstemmed Incontinentia pigmenti
title_sort Incontinentia pigmenti
dc.creator.none.fl_str_mv Contreras Gala, Katherine Luisa
Ventura León, Alex
Espinoza Cenzano, Pol
Contreras Gala, Katherine Luisa
Ventura León, Alex
Espinoza Cenzano, Pol
author Contreras Gala, Katherine Luisa
author_facet Contreras Gala, Katherine Luisa
Ventura León, Alex
Espinoza Cenzano, Pol
author_role author
author2 Ventura León, Alex
Espinoza Cenzano, Pol
author2_role author
author
dc.subject.none.fl_str_mv Incontinencia Pigmentaria
Herencia
Mujeres
Hiperpigmentación
Perú
Incontinentia Pigmenti
Heredity
Females
Hyperpigmentation
Peru
topic Incontinencia Pigmentaria
Herencia
Mujeres
Hiperpigmentación
Perú
Incontinentia Pigmenti
Heredity
Females
Hyperpigmentation
Peru
description Incontinentia Pigmenti is a rare genodermatosis, which is considered a hereditary alteration, linked to the X chromosome, with a dominant character. It occurs more frequently in women, and the main involvement is observed in tissues derived from the ectoderm, that is, it can be seen as abnormalities in the skin, teeth, hair, eyes and nervous system. We report a case of incontinentia pigmenti with cutaneous manifestations in a male newborn is presented. The case was confirmed through two biopsies evaluated in the pathological anatomy service of the Cayetano Heredia Hospital. Due to the broad spectrum of clinical presentation of incontinence pigmenti, it is recommended to consider this entity in the differential diagnosis when we are faced with predominantly vesicular skin lesions that follow a distribution along Blaschko lines. Incontinentia pigmenti is a rare disease in our country, and its diagnosis requires an adequate clinicopathological correlation, and knowledge of the different phases of the disease. The timely and early diagnosis and recognition of the entity will prevent associated complications at the systemic level.  
publishDate 2022
dc.date.none.fl_str_mv 2022-07-27
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/22856
10.15381/anales.v83i3.22856
url https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/22856
identifier_str_mv 10.15381/anales.v83i3.22856
dc.language.none.fl_str_mv spa
language spa
dc.relation.none.fl_str_mv https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/22856/18445
dc.rights.none.fl_str_mv Derechos de autor 2022 Anales de la Facultad de Medicina
http://creativecommons.org/licenses/by-nc-sa/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Derechos de autor 2022 Anales de la Facultad de Medicina
http://creativecommons.org/licenses/by-nc-sa/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana
publisher.none.fl_str_mv Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana
dc.source.none.fl_str_mv Anales de la Facultad de Medicina; Vol. 83 No. 3 (2022); 239-245
Anales de la Facultad de Medicina; Vol. 83 Núm. 3 (2022); 239-245
1609-9419
1025-5583
reponame:Revistas - Universidad Nacional Mayor de San Marcos
instname:Universidad Nacional Mayor de San Marcos
instacron:UNMSM
instname_str Universidad Nacional Mayor de San Marcos
instacron_str UNMSM
institution UNMSM
reponame_str Revistas - Universidad Nacional Mayor de San Marcos
collection Revistas - Universidad Nacional Mayor de San Marcos
repository.name.fl_str_mv
repository.mail.fl_str_mv
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