RT Book, Section
A1 Ritter, David M.
A1 Franz, David N.
A1 Krueger, Darcy A.
A2 Hershey, Andrew D.
SR Print(0)
ID 1195236480
T1 Neurocutaneous Disorders
T2 CURRENT Diagnosis & Treatment Pediatric Neurology
YR 2023
FD 2023
PB McGraw Hill Education
PP New York, NY
SN 9781260457520
LK neurology.mhmedical.com/content.aspx?aid=1195236480
RD 2024/04/18
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.