Dyschromatosis symmetrica hereditaria
Dyschromatosis symmetrica hereditaria | |
---|---|
Other names | Acropigmentation of Dohi[1] |
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 was first reported in Japan, but has also been found to affect individuals from Europe, India and the Caribbean
.
Genetics
This disease is caused by mutation in the double stranded
ADAR1) gene.[3] This gene is located on the long arm of chromosome 1
(1q21).
Diagnosis
Diagnosis is by visualisation and skin biopsy.[4]
Treatment
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See also
- Skin lesion
References
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Dyschromatosis symmetrica hereditaria". www.orpha.net. Retrieved 19 April 2019.
{{cite web}}
: CS1 maint: numeric names: authors list (link) - ISBN 0-7216-2921-0.
- ^ 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)
- ISBN 978-3-319-10896-4.