Abstract
Background: Dyschromatosis symmetrica hereditaria (DSH) is rare autosomal dominant (AD) pigmentary disorder consisting of reticulated patches of hypopigmentation and hyperpigmentation on the hands and feet. It is seen predominantly in patients of Asian ancestry. Adenosine deaminase acting on RNA 1 (ADAR1) is the mutation. DSH has been reported to coexist in patients with Aicardi–Goutières syndrome (AGS), intellectual disability, and dystonia. Here we present a case of a patient likely representing a de novo mutation of DSH.
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