Dyschromatosis symmetrica hereditaria 1
Alternate names
Dyschromatosis symmetrica hereditaria; DSH1; DSH; Familial reticulate acropigmentation of Dohi; Reticulate acropigmentation of Dohi; Symmetric dyschromatosis of the extremities
Definition
A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.
Cause
A mutation has been identified in the double-stranded RNA-specific adenosine deaminase (ADAR) gene.
Inheritance
Transmission is autosomal dominant.
Onset
The first manifestations of the disease generally appear during early childhood.
Signs and symptoms
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Macular hyperpigmentation
- Macular hypopigmentation
- Macule(Flat, discolored area of skin)
30%-79% of people have these symptoms
- Torsion dystonia
Diagnosis
Treatment
NIH genetic and rare disease info
Dyschromatosis symmetrica hereditaria 1 is a rare disease.
Resources
Frequently asked questions
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