Learn About Parkes Weber Syndrome
Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene. When the condition is caused by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. People with Parkes Weber syndrome who do not have multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown.
Parkes Weber syndrome is a rare condition; its exact prevalence is unknown.
Most cases of Parkes Weber syndrome occur in people with no history of the condition in their family. These cases are described as sporadic.
The Kennedy Krieger Institute
Dr. Comi graduated from SUNY Buffalo School of Medicine and received her training in pediatrics at the Children's Hospital of Buffalo and her child neurology training at Johns Hopkins Medicine. Her clinical specialization is in the treatment of the neurological aspects of Sturge-Weber syndrome and other disorders related to capillary malformation. Dr. Comi's clinical research interests focus on improving the early diagnosis and treatment of brain involvement in Sturge-Weber syndrome in order to prevent ischemic brain injury in affected infants and young children, and on studies to understand what causes Sturge-Weber syndrome. Her laboratory research work deals with the pathogenesis of Sturge-Weber syndrome, recently shown to be caused by a somatic mutation, and on developing new drug targets, screening assays, models and therapeutic strategies for Sturge-Weber syndrome. Her lab group also works on developing better neuroprotective and neuroregenerative responses to brain injury resulting from impaired blood flow to the brain. Dr. Comi is rated as an Elite provider by MediFind in the treatment of Parkes Weber Syndrome. Her top areas of expertise are Sturge-Weber Syndrome, Parkes Weber Syndrome, Stork Bite, Epilepsy in Children, and Endovascular Embolization.
Yue Wu practices in Huangpu, China. Wu is rated as an Elite expert by MediFind in the treatment of Parkes Weber Syndrome. Their top areas of expertise are Parkes Weber Syndrome, Sturge-Weber Syndrome, Hemangioma, Familial Multiple Nevi Flammei, and Trabeculectomy.
The Johns Hopkins Hospital
Dr. Doris Da May Lin is an Associate Professor in the Johns Hopkins Medicine Department of Radiology and Radiological Science. She specializes in neuroradiology. Dr. Lin received her B.A. in chemistry from the University of Pennsylvania, and then pursued a joint M.D./Ph.D. degree at the Yale University School of Medicine, with graduate training in the neurosciences. She completed a medical internship at the University of Pennsylvania Hospital and a diagnostic radiology residency at New York Presbyterian Hospital-Cornell. After a two-year neuroradiology fellowship, she joined the faculty at Johns Hopkins. Dr. Lin is rated as a Distinguished provider by MediFind in the treatment of Parkes Weber Syndrome. Her top areas of expertise are Parkes Weber Syndrome, Sturge-Weber Syndrome, Subdural Effusion, CACH Syndrome, and Endovascular Embolization.
Published Date: August 01, 2011
Published By: National Institutes of Health