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Type 2 Sturge-Weber Syndrome

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Authors
Guerreros-Espino, Camila
Collazos-Huamán, Lucero
Valdivieso-Herrera, Marco Antonio
Benites-Zapata, Vicente Aleixandre
Issue Date
2020-03-01
Keywords
Sturge Weber syndrome
Síndrome de Sturge-Weber

Metadata
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Publisher
Ediciones Doyma, S.L.
Journal
Piel
URI
http://hdl.handle.net/10757/651731
DOI
10.1016/j.piel.2019.02.006
Additional Links
https://www.elsevier.es/es-revista-piel-formacion-continuada-dermatologia-21-articulo-sindrome-sturge-weber-tipo-2-S0213925119301777
Abstract
El sı´ndrome de Sturge-Weber (SSW) o angiomatosis ence´falo-trigeminal es un trastorno neurocuta´neo raro e infrecuente asociado a la mutacio´n gene´tica soma´tica del gen GNAQ1,2. Se caracteriza por la presencia de una malformacio´n vascular cuta´nea facial denominada «mancha en vino de Oporto», en asociacio´n con angiomatosis leptomenı´ngea ipsilateral. Asimismo, se pueden asociar las crisis epile´pticas, el retardo mental, la hemiparesia contralateral y el glaucoma ipsilateral
Type
info:eu-repo/semantics/article
Rights
info:eu-repo/semantics/embargoedAccess
Language
spa
ISSN
02139251
ae974a485f413a2113503eed53cd6c53
10.1016/j.piel.2019.02.006
Scopus Count
Collections
Medicina

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