The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.

Port wine stain (PWS) is a congenital vascular malformation involving human skin. Approximately 15-20% of children a facial PWS involving the ophthalmic (V1) trigeminal dermatome are at risk for Sturge Weber syndrome (SWS), a neurocutaneous disorder with vascular malformations in the cerebral cortex on the same side of the facial PWS lesions. Recently, evidence has surfaced that advanced our understanding of the pathogenesis of PWS/SWS, including discoveries of somatic genetic mutations (, ), MAPK and PI3K aberrant activations, and molecular phenotypes of PWS endothelial cells.

Management of vascular tumors.

Vascular tumors are the most common of the vascular anomalies affecting children. The management of these neoplasms has changed over the years as our knowledge of their pathophysiology has increased, available technology has evolved, and our clinical experience has widened. Medical, laser, and surgical therapies are used concurrently to treat these tumors.

Current knowledge and management of vascular anomalies, II: malformations.

Objective: To present current information on the diagnosis, pathogenesis, natural history, and treatment of vascular malformations.

Method: Literature review.

Results: Vascular malformations are a heterogeneous group of congenital lesions resulting from aberrations of vascular embryogenesis.

Current knowledge and management of vascular anomalies: I. Hemangiomas.

Objective: To present current information on the diagnosis, pathogenesis, natural history, and treatment of infantile hemangiomas.

Methods: Literature review.

Results: Infantile hemangiomas are the most common vascular tumors of childhood.