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 | |
|---|---|
| Other names | Acropigmentation of Dohi[1] |
 | |
| Dyschromatosis symmetrica hereditaria is inherited in an autosomal dominant manner | |
Genetics
editThis 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
editDiagnosis is by visualisation and skin biopsy.[4]
Treatment
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See also
editReferences
edit- ^ 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) - ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. 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)
- ^ Inadar, Arun (2016). "Genetic hypermelanosis: Reticulated acropigmentation of Dohi". In Passeron, Thierry; Ortonne, Jean-Paul (eds.). Atlas of Pigmentary Disorders. Switzerland: Springer. p. 84. ISBN 978-3-319-10896-4.