Dyschromatosis universalis hereditaria

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Dyschromatosis universalis hereditaria
PMC4427145 cde-0007-0051-g02.png
A mixture of hypopigmented and hyperpigmented macules on the persons trunk and extremities
SpecialtyDermatology

Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and hypo- pigmentated macules in a generalized distribution.[1]: 856 

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. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  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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