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Dyschromatosis symmetrica hereditaria

FieldValue
synonymsAcropigmentation of Dohi
imageAutosomal dominant - en.svg
captionDyschromatosis 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. 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. This gene is located on the long arm of chromosome 1 (1q21).

Diagnosis

Diagnosis is by visualisation and skin biopsy.

References

References

  1. "Orphanet: Dyschromatosis symmetrica hereditaria".
  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. (2016). "Atlas of Pigmentary Disorders". Springer.
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