TY - CHAP M1 - Book, Section TI - Neurocutaneous Disorders A1 - Ritter, David M. A1 - Franz, David N. A1 - Krueger, Darcy A. A2 - Hershey, Andrew D. PY - 2023 T2 - CURRENT Diagnosis & Treatment Pediatric Neurology AB - Neurocutaneous disorders are diverse disorders that affect both the skin and nervous system (Table 10–1). Many either include or increase the risk of tumors as well. A careful history of neurologic symptoms with a thorough skin exam can often point to the diagnosis before genetic testing is obtained. Genetic testing can confirm the diagnosis when uncertain, assist in identifying additional familial cases not previously suspected, and facilitate family counseling and planning. The disorders in this group often result from mutations in 2 common pathways: mammalian target of rapamycin (mTOR, tuberous sclerosis) and Ras-mitogen–activated protein kinase (Ras-MAPK, neurofibromatosis type 1). Although there are several disorders in this category, focusing on a few of these disorders will allow the general pediatrician and pediatric neurologist to start treatment and screening early. Specifically, recent advances in these disorders provide opportunities for targeted therapies in patients. SN - PB - McGraw Hill Education CY - New York, NY Y2 - 2024/10/10 UR - neurology.mhmedical.com/content.aspx?aid=1195236480 ER -