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Am J Med Genet A. 2004 Mar 15;125A(3):261-6.

Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation.

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  • 1Max Planck Institute for Molecular Genetics, Berlin, Germany.

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.

Copyright 2003 Wiley-Liss, Inc.

PMID:
14994234
[PubMed - indexed for MEDLINE]
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