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Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation

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

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

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

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Citation

Nuber, U. A., Tinschert, S., Mundlos, S., & Hausser, 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.


Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-88A1-3
Abstract
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