Dyschromatosis universalis hereditaria

Medical condition
Dyschromatosis universalis hereditaria
SpecialtyDermatology

Dyschromatosis universalis hereditaria is a type of pigmentation disorder of the skin.[1] It is characterized by dark and light spots formed like lace 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.[citation needed]

It is a rare genodermatosis.[1]

References

  1. ^ a b c 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.
  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.

External links

Classification
D
  • OMIM: 127500
  • MeSH: C535730
  • DiseasesDB: 32816
External resources
  • Orphanet: 241
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Congenital malformations and deformations of integument / skin disease
Genodermatosis
Congenital ichthyosis/
erythrokeratodermia
AD
AR
XR
Ungrouped
EB
and related
Ectodermal dysplasia
Elastic/Connective
Hyperkeratosis/
keratinopathy
PPK
Other
Other

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

Developmental
anomalies
Midline
Nevus
Other/ungrouped

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