Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome

Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome

Abstract Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation,...

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Main Authors: May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Sturge–Weber syndrome
Capillary malformation
Pulsed dye laser
Glaucoma
Epilepsy
Intellectual disability
Online Access:https://doi.org/10.1186/s13023-024-03527-w
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