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Sturge-Weber syndrome: updates in translational neurology.

Front Neurol

December 2024

Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, United States.

Sturge-Weber syndrome (SWS) is a rare congenital neurovascular disorder that initially presents with a facial port-wine birthmark (PWB) and most commonly associated with a R183Q somatic mosaic mutation in the gene . This mutation is enriched in endothelial cells. Contrast-enhanced magnetic resonance imaging (MRI) diagnoses brain abnormalities including leptomeningeal vascular malformation, an enlarged choroid plexus, and abnormal cortical and subcortical blood vessels.

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Introduction: The 595-nm wavelength pulsed dye laser (PDL) is well-established in the treatment of vascular lesions. In June 2023, it received FDA clearance for the treatment of port-wine birthmarks (PWB) and infantile hemangiomas (IH) in the pediatric population.

Objective: Review the evidence regarding the efficacy, safety, and implications of using PDL for management of pediatric PWB and IH.

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Port-wine birthmarks (PWB) are common vascular malformations in infants. Despite various laser and light-based treatments, comparative data on their effectiveness is limited. This study compares different treatments for PWB using a systematic review and network meta-analysis (NMA).

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Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder typically caused by a somatic mosaic mutation in R183Q . At-risk children present at birth with a capillary malformation port-wine birthmark. The primary diagnostic characteristic of the disorder includes leptomeningeal enhancement of the brain, which demonstrates abnormal blood vessels and results in impaired venous drainage and impaired local cerebral perfusion.

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Pulsed Dye Laser for Port Wine Stains in 974 Children: A 20-Year Study in China.

Clin Cosmet Investig Dermatol

November 2024

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, People's Republic of China.

Importance: Port-wine stain (PWS) is a congenital vascular condition involving dilation of skin capillaries and venules, significantly affecting patients' physical and mental health. Pulsed dye laser (PDL) is widely used for PWS treatment; however, large-scale data on pediatric cases remain limited. This retrospective study aims to investigate the efficacy of laser treatment and its related factors in a large sample.

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