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Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation

MPG-Autoren
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50450

Nuber,  Ulrike A.
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50600

Tinschert,  Sigrid
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50437

Mundlos,  Stefan
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Zitation

Nuber, U. A., Tinschert, S., Mundlos, S., & Hauber, I. (2004). Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A, 125A(3), 261-266. doi:10.1002/ajmg.a.20519.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-0010-88A5-C
Zusammenfassung
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.