Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation

Ulrike Nuber, Sigrid Tinschert, Stefan Mundlos, Ingrid Hauber

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

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.
Originalspråkengelska
Sidor (från-till)261-266
TidskriftAmerican Journal of Medical Genetics. Part A
Volym125
Nummer3
DOI
StatusPublished - 2004
Externt publiceradJa

Ämnesklassifikation (UKÄ)

  • Cell- och molekylärbiologi

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