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Terms in this set (214)

- rare autosomal dominant pigmentary disease -characterized by asymptomatic hypopigmented and hyperpigmented macules distributed on the face and dorsal extremities.
-It is most common in patients of Asian descent but has also been reported in patients of European and South American descent.
-The condition is typically limited to the skin but has been associated in rare instances with neurological deterioration and brain calcificiations.
-The lesions tend to appear in infancy and childhood and stabilize during adolescence.
-Mutations in the double-stranded RNA-specific adenosine deaminase gene (ADAR1 or DSRAD) underlie DSH.
-ADAR1 protein catalyzes the deamination of adenosine to inosine in double-stranded RNA which is important for alternative splicing or alternations of codons for protein translation. However, the precise mechanism by which these mutations lead to actual disease remain unknown. -There are two diseases that are phenoptypically similar to DSH and previously thought to be related.
-The first is dyschromatosis universalis hereditaria (DUH) which is characterized by a mixture of hyperpigmented and hypopigmented macules that are widespread. DSH can be distinguished from DUH by its localization to the face and distal acral sites.
-The second disease is acropigmentatio retiticularis (AR, also known as acropigmentation of Kitamura). AR is also characterized by hyperpigmentated macules on the dorsal hands and feet as well as palmar pits. However, in contrast to DSH, it is notably devoid of hypopigmented macules.