Dyschromatosis symmetrica hereditaria

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Dyschromatosis symmetrica hereditaria
Other namesAcropigmentation of Dohi[1]
Autosomal dominant - en.svg
Dyschromatosis symmetrica hereditaria is inherited in an autosomal dominant manner

Dyschromatosis symmetrica hereditaria (also known as "reticulate acropigmentation of Dohi", and "symmetrical dyschromatosis of the extremities") is a rare autosomally inherited dermatosis. It is characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.[2]:855 It presents primarily in the Japanese, but has also been found to affect individuals from Europe, India and the Caribbean.

Genetics[edit]

This disease is caused by mutation in the double stranded RNA specific adenosine deaminase (ADAR1) gene.[3] This gene is located on the long arm of chromosome 1 (1q21).

Diagnosis[edit]

Treatment[edit]

See also[edit]

References[edit]

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Dyschromatosis symmetrica hereditaria". www.orpha.net. Retrieved 19 April 2019.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ Zhang GL, Shi HJ, Shao MH, Li M, Mu HJ, Gu Y, Du XF, Xie P (2013) Mutations in the ADAR1 gene in 2 Chinese families with dyschromatosis symmetrica hereditaria. Genet Mol Res 12(AOP)

External links[edit]

Classification
External resources