Match!

Dyschromatosis universalis hereditaria: two cases in a Chinese family.

Published on Sep 1, 2005in Clinical and Experimental Dermatology1.77
· DOI :10.1111/j.1365-2230.2005.01823.x
G. Wang7
Estimated H-index: 7
(Fourth Military Medical University),
C. Li9
Estimated H-index: 9
(Fourth Military Medical University)
+ 1 AuthorsYu Liu8
Estimated H-index: 8
(Fourth Military Medical University)
Cite
Abstract
Summary Two cases of dyschromatosis universalis hereditaria (DUH) from a Chinese family are presented. Case 1 was a 62-year-old woman who had a generalized and progressive hyper- and hypopigmentation of the skin from the age of 8 years. Her brother had also developed a similar skin pigmentary defect from about the same age. Histopathological and ultrastructural examination of lesional skin showed increased melanin content in epidermal keratinocytes but no changes in the appearance or number of melanocytes. Although hereditary defects may influence melanogenesis resulting in a pigmentary anomaly, the pathogenesis of DUH remains unclear.
  • References (7)
  • Citations (11)
Cite
References7
Newest
Published on Sep 1, 2004in Clinical and Experimental Dermatology1.77
M. Li13
Estimated H-index: 13
(Anhui Medical University),
Y. X. Jiang1
Estimated H-index: 1
+ 7 AuthorsX. Zhang68
Estimated H-index: 68
(Anhui Medical University)
Summary Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucl...
Published on May 1, 2003in Journal of Investigative Dermatology6.29
X. Zhang68
Estimated H-index: 68
(Anhui Medical University),
Min Gao24
Estimated H-index: 24
(Anhui Medical University)
+ 9 AuthorsWen-Tao Yuan11
Estimated H-index: 11
(Chinese National Human Genome Center)
Dyschromatosis symmetrica hereditaria is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the face and the dorsal aspects of the extremities. The genetic basis for this disease is unknown. We performed a genome-wide search in two large Chinese families to map the chromosome location of the responsible gene. We identified a locus at chromosome 1q11–1q21 with a cumulative maximum two-point LOD score of 8.85 at m...
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 Sep 1, 2002in Clinical and Experimental Dermatology1.77
G Sethuraman4
Estimated H-index: 4
,
Mariette D'Souza7
Estimated H-index: 7
+ 2 AuthorsSmiles L2
Estimated H-index: 2
(PSG Institute of Medical Sciences and Research)
Summary Dyschromatosis universalis hereditaria is a clinically heterogenous disorder. We report two unrelated Indian patients with dyschromatosis universalis hereditaria, who had generalized and progressive reticulate hyper- and hypo-pigmentation of the skin. The oral mucosa and tongue also showed mottled pigmentation. Intriguingly, the palms and soles were also affected with a diffuse hyper-pigmentation interspersed with spotty de-pigmented macules. Dystrophic nail changes with pterygium format...
Published on Jan 1, 2000in Pediatric Dermatology1.18
Gomathy Sethuraman15
Estimated H-index: 15
,
Devinder Mohan Thappa23
Estimated H-index: 23
+ 2 AuthorsSadagopan Srinivasan1
Estimated H-index: 1
Published on Sep 1, 1984in Clinical and Experimental Dermatology1.77
W.A.D. Griffiths8
Estimated H-index: 8
(St. John's Hospital)
Cited By11
Newest
Published on Jan 1, 2016in Dermatology Online Journal
Swapan Sardar1
Estimated H-index: 1
,
Anupam Das4
Estimated H-index: 4
,
Debabrata Bandyopadhyay9
Estimated H-index: 9
Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary disorder characterized by the presence of mottled hyperpigmented and hypopigmented macules over the trunk, extremities, and face. We have presented a case series comprised of six members of a family who had numerous hyperpigmented and hypopigmented macules distributed all over the body. Histological findings were suggestive of dyschromatosis universalis hereditaria.
Published on Jan 1, 2014in Acta Dermato-venereologica
Aayush Gupta10
Estimated H-index: 10
,
Yugal K Sharma5
Estimated H-index: 5
+ 3 AuthorsArchana Singh7
Estimated H-index: 7
© 2015 The Authors. doi: 10.2340/00015555-2030 Journal Compilation © 2015 Acta Dermato-Venereologica. ISSN 0001-5555 The dyschromatoses are a group of rare genodermatoses characterised by the presence of asymptomatic mottled hyperpigmented macules admixed with variably sized hypopigmented macules (1). Dyschromatoses are divided into dyschromatosis symmetrica hereditaria (DSH) and dyschromatosis universalis hereditaria (DUH). DUH is clinically diagnosed on the basis of widely distributed small hy...
Published on Sep 1, 2013in Journal of Investigative Dermatology6.29
Caie Zhang3
Estimated H-index: 3
(HUST: Huazhong University of Science and Technology),
Duanzhuo Li4
Estimated H-index: 4
(HUST: Huazhong University of Science and Technology)
+ 19 AuthorsQingyan Zhang2
Estimated H-index: 2
Dyschromatosis universalis hereditaria (DUH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body. No causative genes have been reported to date. In this study, we investigated a large five-generation Chinese family with DUH. After excluding the two known DUH loci, we performed genome-wide linkage analysis and identified a DUH locus on chromosome 2q33.3-q36.1 with a maximum LOD score of 3.49 with marker D2S2382. ...
Published on Dec 1, 2011in Dermatologica Sinica0.81
Yi-Ying Chin3
Estimated H-index: 3
(KMU: Kaohsiung Medical University),
Gwo-Shing Chen16
Estimated H-index: 16
(KMU: Kaohsiung Medical University)
+ 1 AuthorsCheng-Che E. Lan16
Estimated H-index: 16
(KMU: Kaohsiung Medical University)
Dyschromatosis universalis hereditaria (DUH) is a rare disease that is inherited both in autosomal dominant and autosomal recessive patterns. It is characterized by appearance of pinpoint to pea-sized hypo- and hyper-pigmented macules distributed in a reticulated pattern over the trunk and limbs within the first few years of life. Although the pathogenesis is still not clear, some authors proposed that decreased melanosome synthesis rate may underlie this disorder. We describe a 56-year-old fema...
Published on Jan 1, 2010
David Weedon15
Estimated H-index: 15
Published on Jan 1, 2010
David Weedon13
Estimated H-index: 13
(Bond 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 Aug 1, 2009in Clinical and Experimental Dermatology1.77
Cihangir Aliagaoglu9
Estimated H-index: 9
,
Mustafa Atasoy12
Estimated H-index: 12
+ 3 AuthorsRagıp İsmail Engin2
Estimated H-index: 2
(Atatürk University)
A 20-year-old man presented to our clinic with progressive and asymptomatic mottled hyperpigmentation involving almost the whole of his body, which had been present since he was 8 years of age. The first lesions had appeared on the trunk and hyperpigmentation had extended gradually over the years to involve the neck, face and limbs. He had also noticed spotty hypopigmentation among the hyperpigmented macules.
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...
View next paperDyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family