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Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation

Nuber, Ulrike LU ; Tinschert, Sigrid; Mundlos, Stefan and Hauber, Ingrid (2004) In American Journal of Medical Genetics. Part A 125(3). p.261-266
Abstract
We report a familial case of dyschromatosis universalis hereditaria (DUH) which is compatible with an autosomal dominant inheritance. The male proband from Bangladesh presented with randomly distributed hyper- and hypo-pigmented skin lesions of variable shape and size with a mottled appearance. Three additional members of the non-consangineous family are similarly affected. Light and electron microscopy show normal numbers of active melanocytes, but different amounts of fully melanized melanosomes in hyper-pigmented and hypo-pigmented macules. Our findings indicate that DUH is not a disorder of number. It appears to be a disorder of melanosome synthesis rate or in addition melanocyte activity.
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
American Journal of Medical Genetics. Part A
volume
125
issue
3
pages
261 - 266
publisher
John Wiley & Sons
external identifiers
  • pmid:14994234
  • scopus:1542378712
ISSN
1552-4825
DOI
10.1002/ajmg.a.20519
language
English
LU publication?
no
id
dfda2d5c-ba82-43bf-9200-80813a9a554f (old id 1131054)
date added to LUP
2008-06-17 11:49:19
date last changed
2017-07-02 04:33:17
@article{dfda2d5c-ba82-43bf-9200-80813a9a554f,
  abstract     = {We report a familial case of dyschromatosis universalis hereditaria (DUH) which is compatible with an autosomal dominant inheritance. The male proband from Bangladesh presented with randomly distributed hyper- and hypo-pigmented skin lesions of variable shape and size with a mottled appearance. Three additional members of the non-consangineous family are similarly affected. Light and electron microscopy show normal numbers of active melanocytes, but different amounts of fully melanized melanosomes in hyper-pigmented and hypo-pigmented macules. Our findings indicate that DUH is not a disorder of number. It appears to be a disorder of melanosome synthesis rate or in addition melanocyte activity.},
  author       = {Nuber, Ulrike and Tinschert, Sigrid and Mundlos, Stefan and Hauber, Ingrid},
  issn         = {1552-4825},
  language     = {eng},
  number       = {3},
  pages        = {261--266},
  publisher    = {John Wiley & Sons},
  series       = {American Journal of Medical Genetics. Part A},
  title        = {Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation},
  url          = {http://dx.doi.org/10.1002/ajmg.a.20519},
  volume       = {125},
  year         = {2004},
}