Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation
Author
Summary, in English
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.
Publishing year
2004
Language
English
Pages
261-266
Publication/Series
American Journal of Medical Genetics. Part A
Volume
125
Issue
3
Document type
Journal article
Publisher
John Wiley & Sons Inc.
Topic
- Cell and Molecular Biology
Status
Published
ISBN/ISSN/Other
- ISSN: 1552-4825