Results 1 to 10 of about 293 (92)

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

open access: yesClinical, Cosmetic and Investigational Dermatology, 2023
Panpan Wang,1 Chenyu Tang,1 Yige Zhao,1 Ping Wang2 1Department of Dermatology, Hangzhou Third People’s Hospital, Zhejiang Chinese Medical University, Hangzhou, People’s Republic of China; 2Department of Dermatology, Hangzhou Third People’s Hospital ...
Wang P, Tang C, Zhao Y, Wang P
exaly   +4 more sources

Dyschromatosis Symmetrica Hereditaria of Late Onset? [PDF]

open access: yesCase Reports in Dermatological Medicine, 2014
Dyschromatosis symmetrica hereditaria (DSH), also known as reticulated acropigmentation of Dohi, is an autosomal dominant disease with high penetrance, characterized by hypo- and hyperpigmented macules of varying sizes on the dorsal of the extremities ...
Caroline Balvedi Gaiewski   +3 more
doaj   +3 more sources

Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China [PDF]

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands.
Peng Wang   +4 more
doaj   +3 more sources

Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing [PDF]

open access: yesFrontiers in Pediatrics, 2023
BackgroundDyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis characterized by a mixture of hyperpigmented and hypopigmented freckles on the dorsal aspect of the distal extremities. To date, pathogenic
Qian Ma   +3 more
doaj   +2 more sources

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations [PDF]

open access: yesFrontiers in Pediatrics, 2022
Dyschromatosis symmetrica hereditaria (DSH), characterized by a mixture of hyper- and hypopigmented macules on the skin, is a rare pigmentary dermatosis of autosomal dominant inheritance.
Lingjuan Liu   +15 more
doaj   +2 more sources

Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria

open access: yesIndian Journal of Dermatology, 2022
Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder.
Xiaoying Ning   +2 more
doaj   +2 more sources

Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders

open access: yesDermatology 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   +2 more sources

Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism [PDF]

open access: yesInternational Medical Case Reports Journal, 2017
Fahad Al-Saif,1 Ahmed Alhumidi,2 Rama Ayed Alhallaf1 1Dermatology Department, 2Pathology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia Abstract: Dyschromatosis symmetrica hereditaria (DSH) is a rare genodermatosis ...
Al-Saif F, Alhumidi A, Alhallaf RA
doaj   +2 more sources

Unraveling Dowling-Degos Disease: A Rare Skin Disorder. [PDF]

open access: yesClin Case Rep
ABSTRACT Dowling–Degos disease (DDD) is a rare genodermatosis characterized by brown to black macules distributed symmetrically in the axilla, groin, elbow, face, neck, and trunk. It is more common in women, usually after puberty. The main pathogenesis behind DDD is a mutation in the keratin 5 gene.
Mathur M   +5 more
europepmc   +2 more sources

Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis [PDF]

open access: yesFrontiers in Genetics
Dyschromatosis, a group of pigmentary dermatoses, accompany both hyper- and hypo-pigmentation, including dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), and familial progressive hyper- and hypo-pigmentation ...
Tingmei Wang, Dong Li, Yunhua Deng
doaj   +2 more sources

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