Results 111 to 120 of about 434 (146)

Novel Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) in Chinese Families with Dyschromatosis Symmetrica Hereditaria

Journal of Investigative Dermatology, 2004
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder. It is also called “reticulate acropigmentation of Dohi” or “symmetric dyschromatosis of the extremities”.
Qing Liu, Xiuli Zhao
exaly   +2 more sources

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Dyschromatosis symmetrica hereditaria

The Journal of Dermatology, 2012
ABSTRACTDyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis, which is acquired by autosomal dominant inheritance with high penetrance. Most cases of this condition have been reported from East Asian countries, including Japan, China and Taiwan.
Masahiro, Hayashi, Tamio, Suzuki
openaire   +2 more sources

Dyschromatosis symmetrica hereditaria with acral hypertrophy

European Journal of Dermatology, 2011
ejd.2011.1486 Auteur(s) : Teruasa Murata1, Yosuke Yagi2, Miki Tanioka3, Tamio Suzuki4, Yoshiki Miyachi3, Kazumasa Morita1, Atsushi Utani2 utani@nagasaki-u.ac.jp 1 Tenri Hospital, Nara, Japan 2 Department of Dermatology, Nagasaki University 1-7-1 Sakamoto, Nagasaki.
Teruasa Murata, Yosuke Yagi, Miki Tanioka, Tamio Suzuki, Yoshiki Miyachi, Kazumasa Morita, Atsushi Utani   +6 more
openaire   +1 more source

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations [PDF]

Journal of Investigative Dermatology, 2016
journal ...
Michihiro Kono, Mutsumi Suganuma, Shinichi Moriwaki   +2 more
exaly   +2 more sources

Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update

Journal of Dermatological Science, 2019
Dyschromatosis symmetrica hereditaria (DSH) and reticulate acropigmentation of Kitamura (RAK) are rare, inherited pigmentary diseases. DSH shows a mixture of pigmented and depigmented macules on the extremities. RAK shows reticulated, slightly depressed pigmented macules on the extremities. The causative gene of DSH was clarified as ADAR1 by positional
Michihiro, Kono, Masashi, Akiyama
openaire   +2 more sources

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria

Archives of Dermatological Research, 2010
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities and caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene.
Ming, Li, Lijia, Yang, Chengrang, Li, Cheng, Jin, Meiling, Lai, Guolong, Zhang, Yan, Hu, Jin, Ji, Zhirong, Yao   +8 more
openaire   +2 more sources

Density of Dopa-Positive Melanocytes in Dyschromatosis symmetrica hereditaria

Dermatologica, 2009
Dyschromatosis symmetrica hereditaria, one of the hereditary diseases characterized by the presence of pigmented and hypopigmented spots on the extremities, was studied by the splitting dopa stain on the hypopigmented area. There were 190 ± 58/mm2 dopa-positive cells, i.e. less than the normal value of the Japanese population.
S, Hata, I, Yokomi
openaire   +2 more sources

Pathogenesis of a variant in the 5′ untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria

Pigment Cell and Melanoma Research, 2020
AbstractDyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis caused by mutations in ADAR1. In this study, we performed mutation analysis on a family that included typical DSH patients. No mutations were found in any coding regions or exon–intron boundary regions of ADAR1, but a previously unreported non‐coding heterozygous variant,
Mutsumi Suganuma, Michihiro Kono, Masayoshi Yamanaka   +2 more
exaly   +3 more sources

Surgical Treatment of Speckled Skin Caused by Dyschromatosis Symmetrica Hereditaria

Journal of Dermatology, 1986
AbstractThin split skin autografts taken from the abdomen were used to replace speckled skin caused by dyschromatosis symmetrica hereditaria in one patient. Normal skin colour appeared in the recipient areas and no recurrence was observed in the treated areas.
Sadao Kozuka, Toshikazu Usuda
exaly   +3 more sources

A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria

Archives of Dermatological Research, 2007
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities. Pathogenic mutations in the DSRAD gene have been identified.
Ming, Li, Li-Jia, Yang, Yi-Xin, Shi, Hong-Yu, Huang   +3 more
openaire   +2 more sources