RT Book, Section
A1 Hayashi, Masahiro
A1 Suzuki, Tamio
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 1161324207
T1 Albinism and Other Genetic Disorders of Pigmentation
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=1161324207
RD 2024/04/18
AB Albinism  is  characterized  by  hypopigmentation  of  the  skin,  hair,  and  eyes,  or  of  eyes  only,  in  the  affected  individuals.  There  are  2  albinism  subtypes  are  nonsyndromic  albinism,  with  symptoms  restricted  to  impaired  melanin  biosynthesis  (hypopigmentation  of  skin  and  hair,  and  ocular  changes  such  as  reduced  iris  pigment,  nystagmus,  impaired  visual  acuity,  and  foveal  hypoplasia),  and  syndromic  albinism,  such  as  Hermansky-Pudlak  syndrome,  Chediak-Higashi  syndrome,  and  Griscelli  syndrome,  with  various  nonpigmentary  symptoms,  including  bleeding  diathesis,  lung  fibrosis,  and  immunodeficiency.  Other  congenital  disorders  involving  pigmentation  include  a  wide  range  of  disorders  such  as  piebaldism,  Waardenburg  syndrome,  and  reticular  pigmentary  disorders  including  dyschromatosis  symmetrica  hereditaria,  dyschromatosis  universalis  hereditaria,  reticulate  acropigmentation  of  Kitamura,  and  Dowling-Degos  disease.  This  chapter  discusses  all  of  the  disorders  listed  above.