Results 11 to 20 of about 401 (136)

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. [PDF]

PLoS ONE, 2014
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.We performed genome-wide linkage scan using ...
Hong Liu, Yi Li, Ken Kwok Hon Hung, Na Wang, Chuan Wang, Xuechao Chen, Donglai Sheng, Xi'an Fu, Kelvin See, Jia Nee Foo, Huiqi Low, Herty Liany, Ishak Darryl Irwan, Jian Liu, Baoqi Yang, Mingfei Chen, Yongxiang Yu, Gongqi Yu, Guiye Niu, Jiabao You, Yan Zhou, Shanshan Ma, Ting Wang, Xiaoxiao Yan, Boon Kee Goh, John E A Common, Birgitte E Lane, Yonghu Sun, Guizhi Zhou, Xianmei Lu, Zhenhua Wang, Hongqing Tian, Yuanhua Cao, Shumin Chen, Qiji Liu, Jianjun Liu, Furen Zhang   +36 more
doaj   +6 more sources

Dyschromatosis universalis hereditaria

Indian Journal of Dermatology, 2009
Dyschromatosis universalis hereditaria is an infrequently occurring genodermatosis with a peculiar pigmentary change, consisting of varying sized hyperpigmented macules mingled with hypopigmented lesions to give an overall impression of mottling.
Naik Chandra, Singh Gurcharan, Rajashekar T, Okade Rajendra   +3 more
doaj   +5 more sources

Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. [PDF]

PLoS ONE, 2013
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.
Ying-Xia Cui, Xin-Yi Xia, Yang Zhou, Lin Gao, Xue-Jun Shang, Tong Ni, Wei-Ping Wang, Xiao-Buo Fan, Hong-Lin Yin, Shao-Jun Jiang, Bing Yao, Yu-An Hu, Gang Wang, Xiao-Jun Li   +13 more
doaj   +5 more sources

Dyschromatosis universalis hereditaria: A rare case report

Journal of Mahatma Gandhi Institute of Medical Sciences, 2013
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 ...
Esha Bisne, Sonia Jain, V B Shivkumar
doaj   +4 more sources

Dyschromatosis universalis hereditaria: a familial case with ultrastructural skin investigation

Dermatologica Sinica, 2011
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 ...
Stephen Chu-Sung Hu, Cheng-Che E Lan
exaly   +5 more sources

A Case of Sporadic Dyschromatosis Universalis Hereditaria. [PDF]

Ann Dermatol, 2015
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 ...
An JM, Ko BJ, Cho MK, Whang KU.
europepmc   +6 more sources

Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria [PDF]

Journal of Investigative Dermatology, 2013
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.
Zhang, Caie, Li, Duanzhuo, Zhang, Jianguo, Chen, Xingping, Huang, Mi, Archacki, Stephen, Tian, Yuke, Ren, Weiping, Mei, Aihua, Zhang, Qingyan, Fang, Mingyan, Su, Zheng, Yin, Ye, Liu, Dongxian, Chen, Yingling, Cui, Xiukun, Li, Chang, Yang, Huanming, Wang, Qing, Wang, Jun, Liu, Mugen, Deng, Yunhua   +21 more
core   +5 more sources

A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF) [PDF]

Journal of Clinical and Diagnostic Research, 2016
Dyschromatosis Universalis Hereditaria (DUH) belongs to a group of congenital diffuse reticulate pigmentary disorders characterised by both hypo and hyper pigmented macules. It is both hereditary and sporadic.
N.S Jayanthi, V. Anandan, W. Afthab Jameela, V. Senthil Kumar, P. Lavanya   +4 more
doaj   +3 more sources

Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders [PDF]

Dermatology Research and Practice, 2017
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.
H. Alshaikh, F. Alsaif, S. Aldukhi
doaj   +3 more sources

Dyschromatosis universalis hereditaria: Two cases

Dermatology Online Journal, 2008
Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We describe two Tunisian cases of dyschromatosis universalis hereditaria in a 3-year-old and a 3-month-old girl. They presented to our department with asymptomatic progressive mottled
Kenani, N, Ghariani, N, Denguezli, M, Sriha, B, Belajouza, C, Nouira, R   +5 more
core   +7 more sources