Dyschromatosis universals hereditary 3 is caused by mutations in the ABCB6 gene (ATP-binding cassette, sub-family B, member 6).
Dyschromatosis universals hereditaria 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). For a discussion of genetic heterogeneity of DUH, see DUH1 (127500).
Zhang et al. (2013) studied a large Chinese family with dyschromatosis universalis hereditaria in which 13 members over 5 generations were affected. The proband was a 9-year-old boy who had normal skin at birth. Hyperpigmented and hypopigmented macules ... Zhang et al. (2013) studied a large Chinese family with dyschromatosis universalis hereditaria in which 13 members over 5 generations were affected. The proband was a 9-year-old boy who had normal skin at birth. Hyperpigmented and hypopigmented macules appeared initially on his trunk at age 2 years, then gradually extended to involve his face, neck, and limbs. He had no pruritus or pain. Examination of the skin showed motley hyper- and hypopigmented macules over nearly the entire body. The lesions occurred in a symmetric pattern and were most prominent on the face, neck, trunk, and dorsa of hands and feet. His palms and soles, oral mucosa, hair, nails, and teeth were normal. Histopathologic examination of a skin lesion biopsy showed a pigmented basal layer of the epidermis, pigmentary incontinence in the papillary dermis, and some melanophages and lymphocytes in the upper dermis. None of the affected family members had skin cancer or ocular defects.
In a 5-generation Chinese family segregating autosomal dominant dyschromatosis universalis hereditaria mapping to chromosome 2q33.1-q36.1, Zhang et al. (2013) performed whole-exome and Sanger sequencing and identified a heterozygous missense mutation in the ABCB6 gene (L356P; 605452.0008) that segregated ... In a 5-generation Chinese family segregating autosomal dominant dyschromatosis universalis hereditaria mapping to chromosome 2q33.1-q36.1, Zhang et al. (2013) performed whole-exome and Sanger sequencing and identified a heterozygous missense mutation in the ABCB6 gene (L356P; 605452.0008) that segregated with disease in the family and was not found in 500 geographically matched controls. Screening of the ABCB6 gene in 6 sporadic DUH patients revealed heterozygosity for missense mutations (S170G, 605452.0009; G579E, 605452.0010) in 2 patients. Neither of the mutations in the sporadic patients was found in 400 controls or in the 1000 Genomes Project or UCSC Genome Browser databases.