Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis where the affected manifests mottled pigmentation with intermingled hyper- and hypo-pigmented macules. On most occasions, the lesions begin on limbs and then extend to trunk.
Sarita Sasidharanpillai +5 more
doaj +2 more sources
Seven novel mutations were identified in seven multipopulation families with DSH. Our study expands the genetic spectrum of ADAR1 mutations in DSH. Abstract 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 ...
Peng Wang +4 more
wiley +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]
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
A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review [PDF]
Hongping Ge,1,2 Na Zhang,1 Xinru Chen,1,3 Meiyan Wang,1 Tianhui Ye1,3 1Department of Dermatology, Jinhua Municipal Central Hospital (Affiliated Jinhua Hospital, Zhejiang University School of Medicine), Jinhua City, Zhejiang Province, People’s Republic of
Ge H, Zhang N, Chen X, Wang M, Ye T
doaj +2 more sources
Acquired brachial cutaneous dyschromatosis
Acquired brachial cutaneous dyschromatosis (ABCD) is a newly described disorder of pigmentary change that occurs on the dorsal aspects of the forearms in post-menopausal women. We report a case of a 62-year-old woman who developed an asymptomatic, reticulated, gray-brown eruption on the dorsal aspects of the forearms of gradual onset that is clinically
Hu, Stephanie W +4 more
openaire +5 more sources
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
Dyschromatosis symmetrica hereditaria: A retrospective case series and literature review
Background/Objective: Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities.
Amy Chia-Ying Peng +2 more
doaj +2 more sources
Dyschromatosis universalis hereditaria: Dermoscopic insights in a patient with intellectual disability [PDF]
Zaida Elizabeth Rosales Martínez, MD, Dr +3 more
doaj +2 more sources
A novel mutation in ABCB6 associated with dyschromatosis universalis hereditaria in a Saudi family [PDF]
Sara Aldokhayel, MD +6 more
doaj +2 more sources
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations. [PDF]
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Okamura K, Suzuki T.
europepmc +2 more sources

