Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation.
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.
Max Planck Institute for Molecular Genetics, Berlin, Germany.
Ulrike A
UA
Nuber
Sigrid
S
Tinschert
Stefan
S
Mundlos
Ingrid
I
Hauber
D000328:Adult; D000368:Aged; D001459:Bangladesh; D005260:Female; D006801:Humans; D008297:Male; D008544:Melanocytes / Q000648:ultrastructure*; D008548:Melanosis; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology*; D012867:Skin / Q000648:ultrastructure*; D012873:Skin Diseases, Genetic / Q000473:pathology*