RT Book, Section
A1 Revelo, Olvia
A1 Babcock, Michael
A1 Usatine, Richard P.
A2 Usatine, Richard P.
A2 Sabella, Camille
A2 Smith, Mindy Ann
A2 Mayeaux, E.J.
A2 Chumley, Heidi S.
A2 Appachi, Elumalai
SR Print(0)
ID 1114877984
T1 Genodermatoses
T2 The Color Atlas of Pediatrics
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-176701-9
LK accesspediatrics.mhmedical.com/content.aspx?aid=1114877984
RD 2024/04/19
AB There  are  more  than  100  genetic  syndromes  with  cutaneous  manifestations  that  are  referred  to  as  genodermatoses.  There  are  disorders  of:  pigmentation  (e.g.,  albinism),  cornification  (e.g.,  the  ichthyoses  and  Darier  disease),  vascularization  (e.g.,  Sturge-Weber  syndrome),  connective  tissue  (e.g.,  Ehlers-Danlos  syndrome),  metabolism  (e.g.,  phenylketonuria),  immune  system  (e.g.,  Wiskott-Aldrich  syndrome),  and  DNA  repair  (e.g.,  xeroderma  pigmentosa).  Some  textbooks  are  dedicated  to  the  topic  of  genodermatoses  alone.1  This  chapter  introduces  the  topic  and  illustrates  several  genodermatoses.  We  will  focus  our  discussion  on  Darier  disease  and  pachyonychia  congenita  as  an  introduction  to  the  genodermatoses.