RT Book, Section
A1 Hornyak, Thomas J.
A2 Goldsmith, Lowell A.
A2 Katz, Stephen I.
A2 Gilchrest, Barbara A.
A2 Paller, Amy S.
A2 Leffell, David J.
A2 Wolff, Klaus
SR Print(0)
ID 56042949
T1 Chapter 73. Albinism and Other Genetic Disorders of Pigmentation
T2 Fitzpatrick's Dermatology in General Medicine, 8e
YR 2012
FD 2012
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-166904-7
LK accessmedicine.mhmedical.com/content.aspx?aid=56042949
RD 2024/04/24
AB |PrintAlbinism  and  Congenital  Disorders  of  Pigmentation  at  a  GlanceWorldwide  occurrenceAlbinism  is  usually  inherited  as  a  recessive  trait,  but  other  congenital  disorders  of  pigmentation  are  usually  inherited  as  dominant  traits.  There  can  be  marked  differences  in  penetrance.Clinical  features  of  albinism  may  include  lightly  pigmented  or  nonpigmented  skin  and  silvery-white  or  light  hair  color.Ocular  nystagmus  and  reduced  visual  acuity  are  important  features  of  albinism  that  distinguish  albinism  from  other  congenital  disorders  of  pigmentation.Clinical  features  of  congenital  disorders  of  pigmentation  include  patches  of  white  hair  (poliosis),  variations  in  iris  color,  and  depigmented  patches  of  white  skin.The  presence  of  ocular  nystagmus  is  useful  for  distinguishing  albinism  from  congenital  disorders  of  pigmentation.Albino  skin  contains  melanocytes  with  reduced  or  absent  DOPA-positivity.  Depigmented  patches  in  congenital  disorders  of  pigmentation  lack  melanocytes.