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.
Originalspråk | engelska |
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Sidor (från-till) | 261-266 |
Tidskrift | American Journal of Medical Genetics. Part A |
Volym | 125 |
Nummer | 3 |
DOI | |
Status | Published - 2004 |
Externt publicerad | Ja |
Ämnesklassifikation (UKÄ)
- Cell- och molekylärbiologi