TY  - CHAP
M1  - Book, Section
TI  - Neurofibromatosis Type 1
A1  - Stewart, Douglas R.
A2  - Murray, Michael F.
A2  - Babyatsky, Mark W.
A2  - Giovanni, Monica A.
A2  - Alkuraya, Fowzan S.
A2  - Stewart, Douglas R.
PY  - 2014
T2  - Clinical Genomics: Practical Applications in Adult Patient Care
AB  - Disease  summary:Neurofibromatosis  type  1  (NF1)  is  a  common  (∼1/3000),  progressive  neurocutaneous  disorder  primarily  of  increased  tumor  predisposition,  but  also  pigmentary  abnormalities,  osseous  dysplasia,  and  impaired  cognitive  function  that  arises  secondary  to  mutations  in  the  tumor  suppressor  gene  NF1.NF1  is  a  pleiotropic  disorder,  affecting  different  organ  systems  (central  and  peripheral  nervous  systems,  bone,  vasculature)  with  wide  variation  in  severity  of  clinical  features,  even  among  members  of  the  same  family.  There  is  limited  genotype-phenotype  correlation  (see  Counseling).NF1  affects  all  ethnic  groups  and  both  sexes  equally.As  a  population,  individuals  with  NF1  have  a  reduced  lifespan.Hereditary  basis:NF1  is  a  monogenic  disorder  with  an  autosomal  dominant  pattern  of  inheritance.  It  is  100%  penetrant,  typically  by  late  adolescence.  Approximately  half  of  the  individuals  affected  with  NF1  have  a  family  history  of  the  disorder.Differential  diagnosis:The  diagnosis  is  rarely  mistaken  in  a  patient  with  numerous  café-au-lait  macules,  neurofibromas,  and  axillary  freckling.  Certain  features,  especially  when  present  in  isolation  or  in  a  younger  patient,  may  present  a  diagnostic  challenge  (Table  108-1).  Consideration  of  a  missense  NF1  mutation,  or  a  de  novo  NF1  mutation  present  in  a  segmental  or  mosaic  state  (see  Counseling)  should  be  made  when  confronted  with  either  café-au-lait  macules  only  or  neurofibromas  only,  especially  in  a  limited  distribution.  A  diagnosis  of  Legius  syndrome  should  be  considered  in  older  individuals  with  pigmentary  findings  only  and  absence  of  neurofibromas.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/16
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1102704114
ER  -