RT Book, Section
A1 Listernick, Robert
A1 Charrow, Joel
A2 Kang, Sewon
A2 Amagai, Masayuki
A2 Bruckner, Anna L.
A2 Enk, Alexander H.
A2 Margolis, David J.
A2 McMichael, Amy J.
A2 Orringer, Jeffrey S.
SR Print(0)
ID 1161349237
T1 The Neurofibromatoses
T2 Fitzpatrick's Dermatology, 9e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071837798
LK dermatology.mhmedical.com/content.aspx?aid=1161349237
RD 2024/04/19
AB AT-A-GLANCEAutosomal  dominant  condition  with  incidence  of  1  in  3000  live  births.Diagnosed  clinically  if  2  major  features  are  present  (see  Table  135-1).Cutaneous  neurofibromas:Softer  than  the  surrounding  connective  tissue  and  protrude  just  above  the  skin  surface  or  lie  just  under  the  skin  with  an  overlying  violaceous  hue.Subcutaneous  neurofibromas:Arise  from  peripheral  nerves,  both  under  the  skin  and  deep  in  the  viscera.Generally  much  harder.Plexiform  neurofibromas:Generally  present  at  birth  or  apparent  during  the  first  several  years  of  life.May  lead  to  disfigurement,  blindness  (secondary  to  amblyopia,  glaucoma,  or  proptosis),  loss  of  limb  function,  or  organ  dysfunction  by  compression  of  vital  structures.Mosaic  neurofibromatosis  Type  1  (segmental  NF-1):Manifestations  of  NF-1,  usually  limited  to  one  area  of  the  body.Occurs  as  result  of  a  postconceptional  mutation  in  the  NF1  gene,  leading  to  somatic  mosaicism.