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Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation

In English

Författare

  • Ulrike Nuber
  • Sigrid Tinschert
  • Stefan Mundlos
  • Ingrid Hauber

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.

Publiceringsår

2004

Språk

Engelska

Sidor

261-266

Publikation/Tidskrift/Serie

American Journal of Medical Genetics. Part A

Volym

125

Issue

3

Dokumenttyp

Artikel i tidskrift

Förlag

John Wiley & Sons Inc.

Ämne

  • Cell and Molecular Biology

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1552-4825