Results 121 to 130 of about 434 (146)
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A Case of Xeroderma Pigmentosum with Clinical Appearance of Dyschromatosis Symmetrica Hereditaria
Pediatric Dermatology, 1986Abstract: A 9‐year‐old boy complained of increased freckling on the extremities since very early infancy. Examination showed mottled pigmentation with areas of depigmentation on the backs of the hands and tops of the feet, and less strikingly on the arms and legs. Scattered, small, pigmented freckles on the face were also noticed.
C, Nishigori +3 more
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Mutation analyses of patients with dyschromatosis symmetrica hereditaria
2021Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited pigmented skin disorder caused by mutations of adenosine deaminase acting on RNA1(ADAR1) gene, which encodes a double-stranded RNA-specific adenosine deaminase.
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Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria
Archives of Dermatological Research, 2005Dyschromatosis 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 recently been identified. In this study, we report and identify the mutations of the DSRAD gene in two Chinese
Ming, Li +5 more
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The Journal of Dermatology, 1980
ABSTRACTThe data from various tests including phototests and DNA repair capacity, and clinical observations on three cases of infantile dyschromatosis symmetrica hereditaria (Dsh) were studied in comparison with those from 18 cases of the so‐called defective type of xeroderma pigmentosum (XP) in the same age group. There were no abnormalities common to
Y, Satoh, M, Yoshida
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ABSTRACTThe data from various tests including phototests and DNA repair capacity, and clinical observations on three cases of infantile dyschromatosis symmetrica hereditaria (Dsh) were studied in comparison with those from 18 cases of the so‐called defective type of xeroderma pigmentosum (XP) in the same age group. There were no abnormalities common to
Y, Satoh, M, Yoshida
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Two new mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria
Archives of Dermatological Research, 2010Dyschromatosis 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. Genetic studies have identified mutations in ADAR1 gene to be responsible for this disorder.
Cheng-Rang, Li +7 more
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Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria
Journal of Dermatological Science, 2009Yutaka Hozumi +2 more
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Investigation of the pathogenesis of
AbstractThe pathogenesis of dyschromatosis symmetrica hereditaria (DSH) has not been well defined. In this study, we sought to investigate the influence of the ADAR1 gene on DSH both in vitro and in vivo. Morpholino knockdown of adar1 in zebrafish produced phenotypes characterized by polarity changes, and abnormal migration and distribution of ...
Jia Zhang +5 more
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A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria
Clinical and Experimental Dermatology, 2004Dyschromatosis 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.
M, Li +9 more
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33696 Dyschromatosis symmetrica hereditaria disguised as lentigines
Journal of the American Academy of Dermatology, 2022Samantha Sears, Jyoti Burruss
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[Genetic analysis of a child with Dyschromatosis symmetrica hereditaria].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsTo investigate the clinical and genetic features of a child with Dyschromatosis symmetrica hereditaria (DSH) and variant of the ADAR1 gene.A child who was admitted to the Department of Dermatology of the First Affiliated Hospital of Zhengzhou University in June 2020 due to irregular pigmented maculopapular rash on the dorsum of hands was selected as ...
Qian, Ma, Lingyi, Che, Xiangdong, Kong
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