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  Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation

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.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-88A3-0 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-88A4-E
Genre: Journal Article
Alternative Title : Am J Med Genet

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 Creators:
Nuber, Ulrike A.1, Author              
Tinschert, Sigrid2, Author              
Mundlos, Stefan2, Author              
Hauber, Ingrid, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: dyschromatosis; pigmentation; melanocyte; melanosome
 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.

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Language(s): eng - English
 Dates: 2004-03-15
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 225128
DOI: 10.1002/ajmg.a.20519
 Degree: -

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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 125A (3) Sequence Number: - Start / End Page: 261 - 266 Identifier: ISSN: 1552-4825