Dyschromatosis symmetrica hereditaria

Dyschromatosis symmetrica hereditaria
Other namesAcropigmentation 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 RNA specific adenosine deaminase (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

See also

References

  1. ^ 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)
  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)
  4. ^ 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.