Results 61 to 70 of about 401 (136)

Atypical cases of Dowling-Degos disease

Indian Dermatology Online Journal, 2016
Dowling–Degos disease (DDD) is a rare autosomal dominant condition characterized by multiple, small, round pigmented macules usually arranged in reticular pattern, chiefly distributed in axillae and groins.
Kikkeri Narayanshetty Naveen, Sharatchandra B Athaniker, Spandana P Hegde, Rahul Shetty, Hanumanthayya Radha, Sadashivappa Sangam Parinitha   +5 more
doaj   +1 more source

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

, 2008
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 ...
Nürnberg, G., Brakensiek, K., Stuhrmann, M., El-Harith, E.H., Becker, C., Miranda, M.C., Schmidtke, J., Hennies, Hans C., Frye-Boukhriss, H., Huebener, J., Knothe, S., Bukhari, I.A.   +11 more
core   +1 more source

Dyschromatosis Universalis Hereditaria - Case Report of a Rare Genodermatosis in India

, 2017
Karthik Kota, Muneshwar Bhongade, Vivek Bhagat, Bushra Ansari, Sushant Mane, Dipak Sonawane   +5 more
core   +2 more sources

Mutation Analysis of the ADAR1 Gene in Dyschromatosis Symmetrica Hereditaria and Genetic Differentiation from both Dyschromatosis Universalis Hereditaria and Acropigmentatio Reticularis

, 2005
Dyschromatosis symmetrica hereditaria (DSH) (also called “reticulate acropigmentation of Dohi”) is a pigmentary genodermatosis of autosomal dominant inheritance.
Kono, Michihiro, Terui, Tadashi, Fukai, Kazuyoshi, Abe, Masatoshi, Horikawa, Tatsuya, Tsujioka, Kaoru, Inagaki, Katsuhiko, Sato, Kenji, Kawai, Masaaki, Takama, Hiromichi, Matsumoto, Kazuhiko, Ishikawa, Osamu, Suzuki, Noriyuki, Tomita, Yasushi, Ito, Shiro, Shimizu, Hiroshi, Yoshida, Kunihiro, Suzuki, Tamio   +17 more
core   +1 more source

Two Frameshift Mutations in the RNA-Specific Adenosine Deaminase Gene Associated With Dyschromatosis Symmetrica Hereditaria [PDF]

, 2020
Objective: To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH). Design: Pedigree study.
MD; Yun-Qing Ren, Cui Zhang, PhD; Xue-Jun Zhang, MD; Wen-Hui Du, China ; Hefei, Wang, MD; Kai-Yue Zhang, Drs Gao, ( Drs, MD; Kai-Lin Yan, X.-J Zhang, MD; Jian-Jun Chen, K.-Y Zhang, Hu, Zhu, Ren, Du G.-L Yang, Yan Chen, Xiao, MD; Guo-Long Zhang, MD; Feng-Li Xiao, Huang ) Xu, MD; Pei-Guang Wang, MD; Min Gao, PhD; Xiao-Li Hu, MD; Ya-Gang Zhu, Chinese National, MD; Shi-Jie Xu, MD Wei Huang, MD; Yong Cui, MD Sen Yang   +27 more
core  

Diffuse hyperpigmented macules in a 48‐year‐old woman

JEADV Clinical Practice, Volume 3, Issue 2, Page 782-784, June 2024.
Mireia Seguí, Pedro Rodríguez‐Jiménez, Aurora Fernández‐Galván, Javier Fraga, Pablo Chicharro   +4 more
wiley   +1 more source

Dyschromatosis universalis hereditaria.

Indian journal of dermatology, venereology and leprology, 2012
Dyschromatosis universalis hereditaria is a common disorder in Japan. We report a case in an Indian woman with no family history of the disorder.
R, Rai, I, Kaur, S, Handa, B, Kumar
openaire   +1 more source

Molecular genetics of the ABCB6 gene.

, 2014
Abbreviations: DUH: dyschromatosis universalis hereditaria; del: deletion; dup: duplication; fs: frameshift; ins: insertion; N.D.:not determined; rs: RefSNP.Molecular genetics of the ABCB6 gene.
Gyorgy Varady (5661106), Hajnalka Andrikovics (120123), Gergely Szakacs (2633), Geza Antalffy (652424), Magdalena Koszarska (120126), Yoshihiko Tani (652428), Lukasz Pulaski (652427), Dominik Strapagiel (652426), Balazs Sarkadi (5661109), Nora Kucsma (163158), Maciej Studzian (652425), Katalin Kiss (163150), Attila Tordai (92517), Melinda Gera (163167)   +13 more
core   +1 more source

Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria

Indian Journal of Dermatology, Venereology and Leprology, 2006
Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed
M P, Binitha, Daisy, Thomas, L K, Asha
openaire   +2 more sources

Additional file 1 of Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria

, 2021
Lu Cao, Ruixue Zhang, Yong Liang, Shirui Chen, Hui Zhang, Weiwei Chen, Qiongqiong Xu, Huiyao Ge, Yiwen Mao, Zhen Qi, Yafen Yu, Xia Hu, Liangdan Sun   +12 more
openalex   +1 more source