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Dyschromatosis universalis hereditaria 3

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

4

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Genes

External Links

  • OMIM

    615402

  • Orphanet
  • HPO
  • Medgen

    C3809394

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