Dyschromatosis symmetrica hereditaria

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Dyschromatosis symmetrica hereditaria
Other names: Acropigmentation of Dohi[1]
Autosomal dominant - en.svg
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 presents primarily in the Japanese, but has also been found to affect individuals from Europe, India and the Caribbean.

Symptoms and signs

Hyperpigmented macules

The clinical presentation of Dyschromatosis symmetrica hereditaria is as follows on the face, hands, feet:[3]

  • Hyperpigmented macules
  • Hypopigmented macules
  • Torsion dystonia







Genetics

This disease is caused by mutation in the double stranded RNA specific adenosine deaminase (ADAR1) gene.[4] This gene is located on the long arm of chromosome 1 (1q21).

Diagnosis

The means via which a determination is made of Dyschromatosis symmetrica hereditaria is via genetic testing, of course once a family history and clinical exam warrants said test[5]

See also

References

  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Dyschromatosis symmetrica hereditaria". www.orpha.net. Retrieved 19 April 2019.
  2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. "Dyschromatosis symmetrica hereditaria 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 8 August 2021.
  4. 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)
  5. "Dyschromatosis symmetrica hereditaria - Tests - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 8 August 2021.

External links

Classification
External resources