Dyschromatosis universalis hereditaria
| Dyschromatosis universalis hereditaria | |
|---|---|
| Specialty | Dermatology |
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
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ 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.
External links
- Dyschromatosis universalis hereditaria: Two cases, Dermatology Online Journal.