Dyschromatosis Symmetrica Hereditaria

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Retrieved
2021-01-23
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A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.

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.