Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing
Chinese Medical Journal, 2016 Background: The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types ...
Jia-Wei Liu +6 more
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Dyschromatosis symmetrica hereditaria: report of a sporadic case
International Journal of Dermatology, 2010 AbstractA group of pigment disorders is included under the denomination of “dyschromatosis”. Dyschromatosis symmetrica hereditaria is a dominant autosomal genodermatosis mostly reported in Eastern countries. It has been rarely reported in nonoriental races and spontaneous cases are scarce. We report a spontaneous case in the West, a boy 6 years of age,
Javier, Consigli +3 more
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Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family [PDF]
Frontiers in ImmunologyHeterozygous pathogenic variants in ADAR have been associated with dyschromatosis symmetrica hereditaria, while biallelic pathogenic variants have been associated with Aicardi-Goutières syndrome 6 (AGS6).
Ann-Kathrin Bauer +12 more
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A case of dyschromatosis symmetrica hereditaria with an associated eyelid hemangioma. [PDF]
Int J Surg Case Rep, 2021 Abstract Introduction and importance Dyschromatosis symmetrica hereditaria (DSH) are rare autosomal dominant pigmentary genodermatosis characterized by reticular hyper- and hypopigmented skin macules on the dorsal aspect of the extremities and freckle-like spots on the face, sparing the palms ...
Alshomar KM +3 more
europepmc +3 more sources
Dyschromatosis Symmetrica Hereditaria and RNA Editing Enzyme
, 2013 Dyschromatosis symmetrica hereditaria (DSH) is a highly penetrant autosomal-dominant skin disease. It is characterized by a mixture of hyperand hypo-pigmented macules on the dorsal aspects of the hands and feet (Figure 1). The disorder typically has its onset during infancy or early childhood, stops spreading before adolescence and lasts for life.
Michihiro Kono, Masashi Akiyam
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Generalized reticulated hyperpigmented patches interspersed with hypopigmented macules [PDF]
JAAD Case Reports, 2021 Meshal Mohammad Alhameedy, MD
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Dermoscopic features in a case of dyschromatosis symmetrica hereditaria
The Journal of Dermatology, 2010 Usingdermoscopy, we found extraordinary features, whichhad not been described previously.A 24-year-old Japanese man presented with apersistent pigment anomaly. Physical examinationrevealed a mixture of oval or round, hyperpigmentedand pigmented spots 1–7 mm in diameter and irregu-larly shaped hypopigmented macules on the dorsalhands and feet (Fig. 1a).
Naoki OISO +6 more
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Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9
Journal of Dermatological Science, 2000 Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary disorder, first reported by Toyama in 1910. It is characterized by a mixture of hypopigmented and hyperpigmented macules of various sizes on the backs of the hands and feet. The disease gene of DSH and its chromosomal localization have not yet been identified. A family with
M, Kono +3 more
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Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria [PDF]
Genetic Testing and Molecular Biomarkers, 2018 Chen Tu, Sheng-Xiang Xiao
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