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Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation

Författare:
Publiceringsår: 2004
Språk: Engelska
Sidor: 261-266
Publikation/Tidskrift/Serie: American journal of medical genetics. Part A
Volym: 125
Nummer: 3
Dokumenttyp: Artikel

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.

Disputation

Nyckelord

  • Medicine and Health Sciences

Övriga

Published
Yes
  • ISSN: 1552-4825

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