Our understanding of many of the neurocutaneous syndromes has increased substantially in the last few years as we honed our knowledge of the clinical manifestations and delved deeply into the genetics and molecular mechanisms of many of the disorders. Anyone seeking the latest information on these conditions need look no further than recent back-to-back issues of Seminars in Pediatric Neurology, guest edited by Dell Med child neurologists Leah Ferrante, MD, and Chelsey Ortman, MD.
The two issues of Seminars include reviews of well-known disorders such as tuberous sclerosis complex, neurofibromatosis, and Sturge-Weber syndrome as well as lesser-known conditions such as PHACE syndrome, incontinentia pigmenti, and encephalocraniocutaneous lipomatosis. Most covered disorders are reviewed separately, providing up-to-date information about the clinical features, pathophysiology, and treatment options.
Article example: Leah Ferrante and Chelsey Ortman. Genetic principles related to neurocutaneous disorders. Seminars in Pediatric Neurology, volume 51, October 2024. https://doi.org/10.1016/j.spen.2024.101150
