WebMar 29, 2024 · A number sign (#) is used with this entry because of evidence that dyschromatosis universalis hereditaria-1 (DUH1) is caused by heterozygous mutation in the SASH1 gene ( 607955) on chromosome 6q24. Homozygous mutation in the SASH1 gene results in cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma … WebNov 10, 2011 · Infancy and childhood dyschromatoses Dyschromatoses typically involving only the skin. Dyschromatosis symmetrica hereditaria (DSH, also known as acropigmentation of Dohi) is an autosomal dominant genodermatosis, characterized by multiple small hypo- and hyperpigmented macules of irregular size and shape, …
Dyschromatosis universalis hereditaria (Concept Id: C2930995)
WebThe ADAR gene mutations that cause dyschromatosis symmetrica hereditaria result in less functional ADAR1 protein. While the function of this protein in the skin is unknown, researchers suggest that incorrect RNA editing may result in pigment-producing cells (melanocytes) that are more or less active than normal, resulting in the skin spots that ... WebList of clinical and research, molecular, cytogenetic, biochemical and serology tests for human health and Mendelian disorders, pharmacogenetic drug responses, somatic phenotypes, complex conditions and infectious diseases. in bed journal
DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH
WebOct 8, 2002 · Summary Dyschromatosis universalis hereditaria is a clinically heterogenous disorder. We report two unrelated Indian patients with dyschromatosis universalis hereditaria, who had generalized and progressive reticulate hyper‐ and hypo‐pigmentation of the skin. The oral mucosa and tongue also showed mottled … WebMar 29, 2024 · Abstract. Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary genodermatosis usually inherited in autosomal dominant fashion characterized by multiple pinpoint to pea-sized hypo- and ... WebList of clinical and research, molecular, cytogenetic, biochemical and serology tests for human health and Mendelian disorders, pharmacogenetic drug responses, somatic phenotypes, complex conditions and infectious diseases. dvd covers for wynonna earp