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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



  history
ID: 175330.0, MPI für molekulare Genetik / Research Group Development and Disease
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation
Authors:Nuber, Ulrike A.; Tinschert, Sigrid; Mundlos, Stefan; Hausser, Ingrid
Language:English
Date of Publication (YYYY-MM-DD):2004-03-15
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am. J. Med. Genet. A
Volume:125A
Issue / Number:3
Start Page:261
End Page:266
Copyright:© 2004 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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
Free Keywords:dyschromatosis, pigmentation, melanocyte, melanosome
Comment of the Author/Creator:Date: 2004, MAR 15
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:Charite Berlin, Inst Med Genet, D-13353 Berlin, Germany.; Univ Heidelberg, Hautklin, Heidelberg, Germany.; Max Planck Inst Mol Genet, Berlin, Germany.
Identifiers:ISI:000189316800007 [ID No:1]
ISSN:0148-7299 [ID No:2]
DOI:10.1002/ajmg.a.20519 [ID No:3]
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