Dyschromatosis symmetrica hereditaria

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Dyschromatosis symmetrica hereditaria
Other names: Reticulate acropigmentation of Dohi[1]
PMC3312656 IJD-57-42-g001.png
Pale spots on darkened hands
SpecialtyDermatology

Dyschromatosis symmetrica hereditaria, also known as symmetrical dyschromatosis of the extremities, is a type of pigmentation disorder of the skin.[1] It presents with progressively darkening skin with pale small flat spots appearing in a lace-like pattern typically on hands and feet.[1]

It tends to run in families.[1] Most are inherited as autosomal dominant, with a mutation of the ADAR1 gene.[2]

It is rare, and presents primarily in the Japanese, but has also been found to affect individuals from Europe, India and the Caribbean.[1]

Signs and symptoms

It presents with progressively darkening skin with pale small flat spots appearing in a lace-like pattern typically on hands and feet.[1]

Genetics

Dyschromatosis symmetrica hereditaria is inherited in an autosomal dominant manner

Most are inherited as autosomal dominant, with a mutation of the ADAR1 gene.[2]

Diagnosis

Diagnosis is by genetic testing.[1]

See also

References

  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 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. 862–880. ISBN 978-0-323-54753-6. Archived from the original on 2022-08-19. Retrieved 2022-08-26.
  2. 2.0 2.1 Kono, Michihiro; Akiyama, Masashi (1 February 2019). "Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update". Journal of Dermatological Science. 93 (2): 75–81. doi:10.1016/j.jdermsci.2019.01.004. ISSN 0923-1811. PMID 30692041.

External links

Classification
External resources