Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1131054
- author
- Nuber, Ulrike LU ; Tinschert, Sigrid ; Mundlos, Stefan and Hauber, Ingrid
- publishing date
- 2004
- 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}}, }