TY  - CHAP
M1  - Book, Section
TI  - Nevoid Basal Cell Carcinoma Syndrome
A1  - McDonald, Kimberly R.
A1  - Friedrich, Christopher A.
A2  - Murray, Michael F.
A2  - Babyatsky, Mark W.
A2  - Giovanni, Monica A.
A2  - Alkuraya, Fowzan S.
A2  - Stewart, Douglas R.
Y1  - 2014
N1  - 
T2  - Clinical Genomics: Practical Applications in Adult Patient Care
AB  - Disease  summary:Nevoid  basal  cell  carcinoma  syndrome  (NBCCS)  is  characterized  by  multiple  basal  cell  carcinomas  and  odontogenic  keratocysts.A  characteristic  appearance  including  facial  milia,  frontal  bossing,  wide  nasal  bridge,  coarse  facial  features,  high-arched  eyebrows  and  palate,  mandibular  prognathism,  and  macrocephaly  may  be  present.  Palmar  and  plantar  pits,  skeletal  abnormalities  of  the  ribs,  and  vertebrae  and  ectopic  calcification  of  the  falx  cerebri  are  often  found  and  useful  in  diagnosis.Individuals  are  also  at  increased  risk  for  developing  other  cysts  and  neoplasms  including  medulloblastoma  and  cardiac  and  ovarian  fibromas.Hereditary  basis:NBCCS  is  inherited  in  an  autosomal  dominant  fashion,  with  approximately  70%  to  80%  of  patients  receiving  an  affected  gene  from  a  parent  and  the  remaining  20%  to  30%  representing  de  novo  mutations.  Penetrance  is  near  complete.Differential  diagnosis:While  other  inherited  disorders  such  as  susceptibility  to  basal  cell  carcinoma  (BCC),  Bazex  syndrome  and  Rombo  syndrome  should  be  considered  in  the  setting  of  multiple  BCCs,  NBCCS  should  be  highly  suspected  in  cases  of  odontogenic  keratocysts  or  early-onset  medulloblastoma,  see  Table  113-1.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102704404
ER  -