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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
; ; and
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 Inc.
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
2016-04-04 07:42:30
date last changed
2022-01-29 02:27:30
@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 Inc.}},
  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}},
  doi          = {{10.1002/ajmg.a.20519}},
  volume       = {{125}},
  year         = {{2004}},
}