Dyschromatosis symmetrica hereditaria

Source: Wikipedia, the free encyclopedia.
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

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

  • Skin lesion

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. .
  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. .

External links