Meny

Javascript verkar inte påslaget? - Vissa delar av Lunds universitets webbplats fungerar inte optimalt utan javascript, kontrollera din webbläsares inställningar.
Du är här

Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation

Författare:
  • Ulrike Nuber
  • Sigrid Tinschert
  • Stefan Mundlos
  • Ingrid Hauber
Publiceringsår: 2004
Språk: Engelska
Sidor: 261-266
Publikation/Tidskrift/Serie: American Journal of Medical Genetics. Part A
Volym: 125
Nummer: 3
Dokumenttyp: Artikel i tidskrift
Förlag: John Wiley & Sons

Sammanfattning

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.

Nyckelord

  • Cell and Molecular Biology

Övriga

Published
  • ISSN: 1552-4825

Box 117, 221 00 LUND
Telefon 046-222 00 00 (växel)
Telefax 046-222 47 20
lu [at] lu.se

Fakturaadress: Box 188, 221 00 LUND
Organisationsnummer: 202100-3211
Om webbplatsen