Match!

Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation.

Published on Mar 15, 2004in American Journal of Medical Genetics Part A2.20
· DOI :10.1002/ajmg.a.20519
Ulrike A. Nuber17
Estimated H-index: 17
(MPG: Max Planck Society),
Sigrid Tinschert33
Estimated H-index: 33
(MPG: Max Planck Society)
+ 1 AuthorsIngrid Hauber1
Estimated H-index: 1
(Heidelberg University)
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.
  • References (21)
  • Citations (23)
References21
Newest
#1Richard A. Sturm (UQ: University of Queensland)H-Index: 51
#2Rohan D. Teasdale (UQ: University of Queensland)H-Index: 47
Last.Neil F. Box (UQ: University of Queensland)H-Index: 23
view all 3 authors...
#1Kyoung-Ae Jang (Asan Medical Center)H-Index: 12
#2Jaewoong Choi (Asan Medical Center)H-Index: 20
Last.Jai-Kyoung Koh (Asan Medical Center)H-Index: 20
view all 5 authors...
#1Nam Soo Kim (Ajou University)H-Index: 4
#2Sungbin Im (Ajou University)H-Index: 2
Last.Soo-Chan Kim (Ajou University)H-Index: 23
view all 3 authors...
Cited By23
Newest
#1Ding'an Zhou (CQMU: Chongqing Medical University)H-Index: 2
#2Zhiyun Wei (SJTU: Shanghai Jiao Tong University)H-Index: 16
Last.Jing Wang (CQMU: Chongqing Medical University)H-Index: 1
view all 19 authors...
#1Thuy L. Phung (BCM: Baylor College of Medicine)H-Index: 17
#2Teresa S. Wright (UTHSC: University of Tennessee Health Science Center)
Last.Bruce R. Smoller (UR: University of Rochester)H-Index: 43
view all 4 authors...
#1Jia-Wei Liu (Peking Union Medical College Hospital)H-Index: 1
#2AsanH-Index: 1
Last.Dong-Lai Ma (Peking Union Medical College Hospital)H-Index: 5
view all 7 authors...
#1A. Cuell (Boston Children's Hospital)H-Index: 1
#2N. Bansal (HEFT: Heart of England NHS Foundation Trust)H-Index: 1
Last.C. K. Thind (Boston Children's Hospital)H-Index: 1
view all 11 authors...
#1Wei-Tai Yu (KMU: Kaohsiung Medical University)H-Index: 1
#2Yung-Shun Su (KMU: Kaohsiung Medical University)H-Index: 2
Last.Chih-Hung Lee (KMU: Kaohsiung Medical University)H-Index: 2
view all 3 authors...
View next paperDyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family