| ID:
175330.0,
MPI für molekulare Genetik / Research Group Development and Disease |
| Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation |
| Authors: | Nuber, Ulrike A.; Tinschert, Sigrid; Mundlos, Stefan; Hausser, Ingrid |
| Language: | English |
| Date of Publication (YYYY-MM-DD): | 2004-03-15 |
| Title of Journal: | American Journal of Medical Genetics Part A |
| Journal Abbrev.: | Am. J. Med. Genet. A |
| Volume: | 125A |
| Issue / Number: | 3 |
| Start Page: | 261 |
| End Page: | 266 |
| Copyright: | © 2004 Wiley-Liss, Inc. |
| Review Status: | not specified |
| Audience: | Experts Only |
| Abstract / Description: | 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 |
| Free Keywords: | dyschromatosis, pigmentation, melanocyte, melanosome |
| Comment of the Author/Creator: | Date: 2004, MAR 15 |
| External Publication Status: | published |
| Document Type: | Article |
| Version Comment: | Automatic journal name synchronization |
| Communicated by: | Stefan Mundlos |
| Affiliations: | MPI für molekulare Genetik
|
| External Affiliations: | Charite Berlin, Inst Med Genet, D-13353 Berlin, Germany.; Univ Heidelberg, Hautklin, Heidelberg, Germany.; Max Planck Inst Mol Genet, Berlin, Germany.
|
| Identifiers: | ISI:000189316800007 [ID No:1]
ISSN:0148-7299 [ID No:2]
DOI:10.1002/ajmg.a.20519 [ID No:3] |
|
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