Dyschromatosis universalis hereditaria

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Dyschromatosis universalis hereditaria
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A mixture of hypopigmented and hyperpigmented macules on the persons trunk and extremities
SpecialtyDermatology

Dyschromatosis universalis hereditaria is a type of pigmentation disorder of the skin.[1] It is a rare genodermatosis characterized by reticulate hyper- and hypo- pigmentated macules in a generalized distribution.[1]

Both autosomal dominant and recessive inheritance have been reported with the disorder.[2]

It has been associated with mutations in genes SASH1 and ABCB6.

References

  1. 1.0 1.1 James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020). "36. Disturbances of pigmentation". Andrews' Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. pp. 865–866. ISBN 978-0-323-54753-6. Archived from the original on 2022-09-13. Retrieved 2022-08-29.
  2. Stuhrmann M, Hennies HC, Bukhari IA, Brakensiek K, Nürnberg G, Becker C, Huebener J, Miranda MC, Frye-Boukhriss H, Knothe S, Schmidtke J, El-Harith EH (June 2008). "Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23". Clinical Genetics. 73 (6): 566–572. doi:10.1111/j.1399-0004.2008.01000.x. PMID 18462451. S2CID 9623609.

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