Match!

Dyschromatosis universalis hereditaria: A rare case report

Published on Jan 1, 2013in Journal of Mahatma Gandhi Institute of Medical Sciences
· DOI :10.4103/0971-9903.117794
Esha Bisne1
Estimated H-index: 1
(Mahatma Gandhi Institute of Medical Sciences),
Sonia Jain3
Estimated H-index: 3
(Mahatma Gandhi Institute of Medical Sciences),
Vb Shivkumar1
Estimated H-index: 1
(Mahatma Gandhi Institute of Medical Sciences)
Cite
Abstract
Dyschromatosis universalis hereditaria is an autosomal dominant disorder but may be recessive or sporadically inherited disorder, infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled hyperpigmented and hypopigmented macules that give an overall impression of mottling. Herein, we report this extremely rare case of dyschromatosis universalis hereditaria in a young male with a family history of the same disorder in his younger brother.
  • References (6)
  • Citations (1)
Cite
References6
Newest
Published on May 1, 2013in Journal of Dermatology3.38
Masahiro Hayashi10
Estimated H-index: 10
(YU: Yamagata University),
Tamio Suzuki24
Estimated H-index: 24
(YU: Yamagata University)
Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis, which is acquired by autosomal dominant inheritance with high penetrance. Most cases of this condition have been reported from East Asian countries, including Japan, China and Taiwan. Its symptoms are mixed hyper- and hypopigmented macules on the dorsal aspect of the hands and feet and freckle-like macules on the face. The gene responsible for DSH has been identified as adenosine deaminase acting on RNA1 (ADAR1). Th...
Published on Oct 22, 2008
Clive Archer1
Estimated H-index: 1
Published on Feb 28, 2008in Dermatology Online Journal
N. Kenani5
Estimated H-index: 5
,
N. Ghariani8
Estimated H-index: 8
+ 3 AuthorsR. Nouira9
Estimated H-index: 9
Published on Aug 1, 2003in American Journal of Human Genetics9.92
Qinghe Xing26
Estimated H-index: 26
(CAS: Chinese Academy of Sciences),
Xiangdong Chen3
Estimated H-index: 3
+ 8 AuthorsMingtai Wang4
Estimated H-index: 4
(Zhengzhou University)
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on extremities and face. The gene, or even its chromosomal location, for DSH has not yet been identified. In this study, two Chinese families with DSH were identified and subjected to a genomewide screen for linkage analysis. Two-point linkage analysis for pedigree A (maximum LOD score [Zmax] = 7.28 at recombination fraction [θ] = 0.00) and pedigree B...
Published on Jan 1, 2000in Dermatologic Clinics2.85
Amit G. Pandya35
Estimated H-index: 35
,
Ian L. Guevara9
Estimated H-index: 9
(UTSW: University of Texas Southwestern Medical Center)
Hyperpigmentation of the skin is a common complaint among patients consulting with dermatologists. The majority of the world's population is brown-skinned, and an enormous amount of interest worldwide is focused on restoring hyperpigmented skin to its natural color by skin care specialists. Treatment of hyperpigmentation disorders, however, is often difficult and prolonged, requiring a great deal of patience and knowledge of a variety of therapeutic modalities to achieve success. Over the past d...
Published on Mar 1, 1997in Journal of Dermatology3.38
Nam Soo Kim4
Estimated H-index: 4
(Ajou University),
Sungbin Im2
Estimated H-index: 2
(Ajou University),
Soo-Chan Kim23
Estimated H-index: 23
(Ajou University)
We report electron microscopic findings from both hyperchromic and achromic macules of dyschromatosis universalis hereditaria (DUH). The keratinocytes of the hyperchromic macules contained numerous, fully melanized melanosomes; almost all of them were aggregated to form the melanosome complex. In contrast, the melanosomes were absent from both keratinocytes and melanocytes of achromic macules, even though intact melanocytes were found. Our results suggest that DUH may be a disorder of melanosome...