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Dyschromatosis Universalis Hereditaria with Renal Failure

Published on Apr 1, 2015in Case Reports in Dermatology
· DOI :10.1159/000381174
Salinee Rojhirunsakool1
Estimated H-index: 1
,
Vasanop Vachiramon9
Estimated H-index: 9
Cite
Abstract
Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both hypopigmented and hyperpigmented macules. We report a case of DUH with unexplained childhood-onset renal failure. The association between DUH and renal failure is yet to be proven by further studies.
  • References (11)
  • Citations (2)
Cite
References11
Newest
Published on Feb 3, 2014in PLOS ONE2.78
Hong-Hong Liu2
Estimated H-index: 2
,
Yi Li44
Estimated H-index: 44
(Genome Institute of Singapore)
+ 34 AuthorsJia Nee Foo24
Estimated H-index: 24
(Genome Institute of Singapore)
Background As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH. Methodology We performed genome-wide linkage scan using Illumina Human 660W-Quad BeadChip and exome sequencing analyses using Agilent SureSelect Human All Exon Kits in a multiplex Chinese DUH family to identify the pathogenic mutations and verified the candidate mutations using Sanger...
Published on Nov 5, 2013in PLOS ONE2.78
Ying-Xia Cui10
Estimated H-index: 10
,
Xia Xy10
Estimated H-index: 10
+ 11 AuthorsShao-Jun Jiang1
Estimated H-index: 1
Objective Dyschromatosis universalis hereditaria (DUH) is a rare heterogeneous pigmentary genodermatosis, which was first described in 1933. The genetic cause has recently been discovered by the discovery of mutations in ABCB6. Here we investigated a Chinese family with typical features of autosomal dominant DUH and 3 unrelated patients with sporadic DUH.
Published on Sep 28, 2012in Ceylon Medical Journal
S Pirasath1
Estimated H-index: 1
,
T Sundaresan1
Estimated H-index: 1
,
T Tamilvannan1
Estimated H-index: 1
Dyschromatosis universalis hereditaria (DUH) is an extremely rare genodermatosis, characterised by hyperand hypo-pigmented macules forming a reticulate pattern. We describe a patient with features of DUH. DOI: http://dx.doi.org/10.4038/cmj.v57i3.4705 Ceylon Medical Journal 2012; 57 : 124-125
Published on Dec 1, 2011in Clinical and Experimental Dermatology1.77
Vasanop Vachiramon9
Estimated H-index: 9
(MU: Mahidol University),
Kunlawat Thadanipon4
Estimated H-index: 4
(MU: Mahidol University),
Kumutnart Chanprapaph6
Estimated H-index: 6
(MU: Mahidol University)
Summary The dyschromatoses are a group of pigmentary disorders characterized clinically by mixed and often guttate hypopigmented and hyperpigmented lesions. There are many conditions that present with dyschromatosis, including genodermatoses, inflammatory skin diseases, infections, drug and chemical use, and nutritional disorders. Some conditions have extracutaneous features. Poikiloderma (a combination of hypo- and hyperpigmentation with telangiectasia and atrophy) must be excluded. In this art...
Published on Aug 1, 2011in Journal of The American Academy of Dermatology7.10
Toshitatsu Nogita12
Estimated H-index: 12
(TMU: Tokyo Medical University),
Yoshihiko Mitsuhashi11
Estimated H-index: 11
(TMU: Tokyo Medical University)
+ 1 AuthorsRyoji Tsuboi35
Estimated H-index: 35
(TMU: Tokyo Medical University)
Published on Dec 1, 2009in Clinical and Experimental Dermatology1.77
C. Y. Wu1
Estimated H-index: 1
(NDMC: National Defense Medical Center),
W. H. Huang1
Estimated H-index: 1
(NDMC: National Defense Medical Center)
Published on May 7, 2008in Clinical Genetics4.10
M. Stuhrmann2
Estimated H-index: 2
(MHH: Hannover Medical School),
Hans Christian Hennies37
Estimated H-index: 37
(University of Cologne)
+ 9 AuthorsS. Knothe1
Estimated H-index: 1
(MHH: Hannover Medical School)
Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both disorders usually show autosomal dominant inheritance, although in some cases autosomal recessive inheritance was reported. DSH was mapped to chromosome 1q21.3, and mutations in the gene ADAR (DSRAD) were identified in Japanese, Chinese and Taiwanese families with autosomal dominant DSH. A second locus for dyschromatosis was mapped on chromosome...
Published on Mar 15, 2004in American Journal of Medical Genetics Part A2.20
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)
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 melanosom...
Published on Nov 1, 2002in Pediatric Dermatology1.18
Khalid Al Hawsawi2
Estimated H-index: 2
,
Khalid Al Aboud2
Estimated H-index: 2
+ 1 AuthorsDaifullah Al Aboud1
Estimated H-index: 1
(King Khalid University)
We describe dyschromatosis universalis in a 19-month-old Saudi Arabian girl. She had no associated defects and none of the other family members were affected. Similar cases reported from countries other than the Far East, where the disease was first described, are discussed.
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...
Cited By2
Newest
Published on Jan 1, 2017in Dermatology Research and Practice
H. Alshaikh1
Estimated H-index: 1
,
F. Alsaif1
Estimated H-index: 1
,
S. Aldukhi1
Estimated H-index: 1
Reticulated pigmentation is a unique pigmentary change caused by a heterogeneous group of hereditary and acquired disorders. This pigmentation is characterized by a mottled appearance, with lesions that vary in size and pigmentary content. This review discusses the hereditary group of the reticulated pigmentation disorders, such as dyschromatosis symmetrica hereditaria, dyschromatosis universalis hereditaria, and reticulate acropigmentation of Kitamura. The clinical presentation and histopatholo...
View next paperDyschromatosis universalis hereditaria: A rare case report