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A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.
BMJ Open
December 2024
INSERM UMR1231 Génétique des Anomalies du Développement (GAD), Université de Bourgogne, Dijon, France.
Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).
View Article and Find Full Text PDFA case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.
Int J Surg Case Rep
January 2025
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
View Article and Find Full Text PDFThe 595-nm Wavelength Pulsed Dye Laser for Pediatric Port-Wine Birthmarks and Infantile Hemangiomas: A Systematic Review.
Lasers Surg Med
December 2024
Department of Dermatology, Laser & Skin Surgery Center of New York, New York, New York, USA.
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.
Evaluation of efficacy of Hemoporfin-PDT in the treatment of PWS birthmarks of young children previously received PDL treatment.
Photodiagnosis Photodyn Ther
December 2024
Department of Dermatology, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710004, China. Electronic address:
Background: Hemoporfin-mediated photodynamic therapy (Hemoporfin-PDT) is considered a safe and effective treatment for port-wine stains (PWS). This study aims to investigate the influence of prior pulse dye laser (PDL) treatments history on the effectiveness of Hemoporfin-PDT in young children aged 1-3 years with PWS.
Methods: Data was gathered for individuals with PWS aged 1-3 years who received two or more Hemoporfin-PDT treatments.
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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