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 was first reported in Japan, but has also been found to affect individuals from Europe, India and the Caribbean.
Dyschromatosis symmetrica hereditaria | |
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Other names | Acropigmentation of Dohi[1] |
Dyschromatosis symmetrica hereditaria is inherited in an autosomal dominant manner |
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 is by visualisation and skin biopsy.[4]
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