Articles with "symmetrica hereditaria" as a keyword



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Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update.

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Published in 2019 at "Journal of dermatological science"

DOI: 10.1016/j.jdermsci.2019.01.004

Abstract: 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… read more here.

Keywords: acropigmentation kitamura; reticulate acropigmentation; dyschromatosis symmetrica; symmetrica hereditaria ... See more keywords
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A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features

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Published in 2017 at "Journal of the European Academy of Dermatology and Venereology"

DOI: 10.1111/jdv.14332

Abstract: Dyschromatosis symmetrica hereditaria (DSH), which characterized by hyper- or hypopigmented macules on the dorsal aspect of distal extremities and freckle-like macules on the face, is a rare pigmented genodermatosis that usually restricted to the skin.… read more here.

Keywords: dyschromatosis symmetrica; adar1 gene; frameshift mutation; novel frameshift ... See more keywords
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Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria

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Published in 2018 at "Nagoya Journal of Medical Science"

DOI: 10.18999/nagjms.80.2.267

Abstract: ABSTRACT Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities. Heterozygous mutations in the adenosine deaminase acting on RNA1 gene… read more here.

Keywords: analysis genotype; dyschromatosis symmetrica; mutation; symmetrica hereditaria ... See more keywords

A Case Report of Dyschromatosis Symmetrica Hereditaria with Glucose-6-Phosphate Dehydrogenase Deficiency

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Published in 2023 at "Clinical, Cosmetic and Investigational Dermatology"

DOI: 10.2147/ccid.s407052

Abstract: Abstract Dyschromatosis symmetrica hereditaria (DSH) is a pigmented genetic skin disorder with an incompletely understood pathogenesis characterized by reticular hyper- and hypopigmented skin patches on the dorsal aspect of the extremities, freckle-like patches on the… read more here.

Keywords: dyschromatosis symmetrica; glucose phosphate; symmetrica hereditaria; phosphate dehydrogenase ... See more keywords