Dyschromatosis universalis hereditaria with involvement of palms
Indian Dermatology Online Journal, 2014 Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by hyper- and hypopigmented macules in a reticulate pattern. Here, we present a case of DUH with involvement of the palms.
US Dinesh
exaly +6 more sources
A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association [PDF]
Indian Dermatology Online Journal, 2015 Dyschromatosis universalis hereditaria (DUH) is a rare, autosomal dominant genodermatosis with a peculiar reticulate pigmentary change, consisting of hyperpigmented macules mingled with hypopigmented lesions to give an overall impression of mottling.
Sumir Kumar
exaly +6 more sources
Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria [PDF]
Journal of Clinical Laboratory Analysis, 2021 Genetic screening revealed a heterozygous SASH1 c.1547G>A (p.Ser516Asn) mutation for patients in family 1, and SASH1 c.1547G>T (p.Ser516Ile) for family 2. Both such de novo mutations are located in a highly conserved SLY domain in SASH1, have not been previously reported in any publication, and were not detected in any control databases.
Jia-Wei Liu +2 more
exaly +3 more sources
Dyschromatosis Universalis Hereditaria with Renal Failure [PDF]
Case Reports in Dermatology, 2015 Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both hypopigmented and hyperpigmented macules.
Salinee Rojhirunsakool +1 more
doaj +5 more sources
Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis [PDF]
Frontiers in Genetics, 2020 Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by mottled hyperpigmented and hypopigmented macules. SASH1 and ABCB6 have been identified as the causative genes for this disorder. We performed whole exome sequencing on
Lili Tang, Peiguang Wang, Tang Lili
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Dyschromatosis universalis hereditaria: Dermoscopic insights in a patient with intellectual disability [PDF]
JAAD Case ReportsSilvia Anett Mejía Rodríguez
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Dyschromatosis universalis hereditaria with hypospadias: A rare association
Indian Dermatology Online Journal, 2020 Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis, which presents as hyper- and hypopigmented macules all over the body. Although a benign condition, rarely DUH is associated with abnormalities of dermal connective tissue, nerve, and systemic conditions.
Kananbala Sahu +2 more
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Dyschromatosis universalis hereditaria with keratoacanthoma: a rare presentation
Pigment International, 2022 Dyschromatosis Universalis hereditaria is a rare pigmentary disorder presenting with dyschromia of skin involving trunk and extremities arranged in mottled manner lesions, usually present in the first few years of life.
Veena
doaj +5 more sources
Removal of forearm lentigines in dyschromatosis universalis hereditaria with a 755-nm Q-switched alexandrite laser [PDF]
JAAD Case Reports, 2018 Yiming Li, MD, PhD, Li Li, MD, PhD
exaly +4 more sources
Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria [PDF]
BMC Medical Genomics, 2021 Background Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of
Lu Cao +12 more
doaj +2 more sources