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Dyschromatosis symmetrica hereditaria
Disease definition
A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.
ORPHA:41
Classification level: DisorderSummary
Clinical description
The first manifestations of the disease generally appear during early childhood.
Etiology
A mutation has been identified in the double-stranded RNA-specific adenosine deaminase (ADAR) gene.
Genetic counseling
Transmission is autosomal dominant.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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