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Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family

Published on May 1, 2006in Journal of The European Academy of Dermatology and Venereology5.113
· DOI :10.1111/j.1468-3083.2006.01522.x
Iqbal A. Bukhari9
Estimated H-index: 9
(King Faisal University),
El-Harith A. El-Harith9
Estimated H-index: 9
,
M. Stuhrmann2
Estimated H-index: 2
Abstract
  • References (5)
  • Citations (18)
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References5
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#1Qinghe Xing (CAS: Chinese Academy of Sciences)H-Index: 27
#2Xiangdong ChenH-Index: 3
Last. Lin He (CAS: Chinese Academy of Sciences)H-Index: 57
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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...
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#1X. Y. Zhang (Anhui Medical University)H-Index: 71
#2Min Gao (Anhui Medical University)H-Index: 24
Last. Wei Huang (Chinese National Human Genome Center)H-Index: 39
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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...
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#1Khalid Al HawsawiH-Index: 2
#2Khalid Al AboudH-Index: 2
Last. Daifullah Al Aboud (King Khalid University)H-Index: 1
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#1Nam Soo Kim (Ajou University)H-Index: 4
#2Sungbin Im (Ajou University)H-Index: 2
Last. Soo-Chan Kim (Ajou University)H-Index: 24
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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...
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Cited By18
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#1Jian Zhang (SJTU: Shanghai Jiao Tong University)H-Index: 29
#2Minglu Li (SJTU: Shanghai Jiao Tong University)H-Index: 36
Last. Zhirong Yao (SJTU: Shanghai Jiao Tong University)H-Index: 13
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Summary Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat ...
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#2Jennyfer Granizo-Rubio (Central University of Ecuador)
Source
#1Swapan SardarH-Index: 1
#2Anupam DasH-Index: 3
Last. Debabrata BandyopadhyayH-Index: 9
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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.
#1Je Min An (SCH: Soonchunhyang University)H-Index: 2
#2Bum Joon Ko (SCH: Soonchunhyang University)H-Index: 1
Last. Kyu Uang Whang (SCH: Soonchunhyang University)H-Index: 7
view all 4 authors...
Dear Editor: Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hypo- and hyper-pigmented macules with a reticulated pattern, giving an overall impression of mottling, over the trunk and limbs. It is generally an autosomal dominant disorder but recessive inheritance and patients without a family history of dyschromatosis have been reported, implying a sporadic origin1,2. The etiology of this disorder is unknown. It was recently suggested to be a disorder of me...
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#1Aayush GuptaH-Index: 11
#2Yugal K SharmaH-Index: 5
Last. Archana SinghH-Index: 57
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© 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...
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#1Ying-Xia CuiH-Index: 11
#2Xin-Yi XiaH-Index: 11
Last. Xiao-Jun LiH-Index: 9
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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.
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Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We report a case of DUH in a south Indian woman with a positive family history with cosmetic disfigurement and severe psychological impairment.
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#1Caie Zhang (HUST: Huazhong University of Science and Technology)H-Index: 3
#2Duanzhuo Li (HUST: Huazhong University of Science and Technology)H-Index: 4
Last. Yunhua Deng (HUST: Huazhong University of Science and Technology)H-Index: 3
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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. ...
40 CitationsSource
#1Ming Li (SJTU: Shanghai Jiao Tong University)H-Index: 12
#2Ruhong Cheng (SJTU: Shanghai Jiao Tong University)H-Index: 10
Last. Zhirong Yao (SJTU: Shanghai Jiao Tong University)H-Index: 13
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Dowling-Degos disease (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and hypopigmentation of the flexures, such as the neck, axilla, and areas below the breasts and groin, and shows considerable heterogeneity. Loss-of-function mutations of keratin 5 (KRT5) have been identified in DDD individuals. In this study, we collected DNA samples from a large Chinese family affected by generalized DDD a...
71 CitationsSource