Dyschromatosis universals hereditary 1 is caused by mutations in the gene DUH1 mapping to chromosome 6q24.2-q25.2.
Dyschromatosis universals hereditary is clinically diagnosed on the basis of widely distributed small hypo- and hyperpigmented lesions with appearance in infancy or early childhood (PMID:25474346).
DUH is usually transmitted in an autosomal dominant pattern, with very few autosomal recessive and even sporadic cases reported (PMID:25474346).
Precise etiology is not yet known, but clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing (PMID:12372090).
Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes ... Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). - Genetic Heterogeneity of Dyschromatosis Universalis Hereditaria Dyschromatosis universalis hereditaria-2 (DUH2; 612715) maps to chromosome 12q21-q23. DUH3 (615402) is caused by mutation in the ABCB6 gene (605452) on chromosome 2q35.
Dyschromatosis universalis hereditaria, which occurs most commonly in Japanese, is characterized by pigmented flecks and spots over much of the body. It is distinct from dyschromatosis symmetrica hereditaria (DSH; 127400), which also occurs particularly in Japanese and Korean ... Dyschromatosis universalis hereditaria, which occurs most commonly in Japanese, is characterized by pigmented flecks and spots over much of the body. It is distinct from dyschromatosis symmetrica hereditaria (DSH; 127400), which also occurs particularly in Japanese and Korean individuals, but shows a characteristic mixture of hyper- and hypopigmented macules limited largely to the dorsal aspects of the hands and feet (Suenaga, 1952). Gao et al. (2005) noted that lesions associated with DUH appear within the first year of life predominantly on the trunk, whereas the age of onset of DSH is approximately 6 years and lesions appear predominantly on the extremities. In a family with DUH reported by Nuber et al. (2004), the male proband presented with randomly distributed hyper- and hypopigmented skin lesions of variable shape and size with a mottled appearance. Light and electron microscopy showed normal numbers of active melanocytes, but different amounts of fully melanized melanosomes in hyper- and hypopigmented macules. The findings were interpreted as indicating that DUH is not a disorder of melanocyte number.