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Dyschromatosis symmetrica hereditaria

2012; Wiley; Volume: 40; Issue: 5 Linguagem: Inglês

10.1111/j.1346-8138.2012.01661.x

1346-8138

Masahiro Hayashi, Tamio Suzuki,

melanin and skin pigmentation

ABSTRACT Dyschromatosis symmetrica hereditaria ( DSH ) is a rare pigmentary genodermatosis, which is acquired by autosomal dominant inheritance with high penetrance. Most cases of this condition have been reported from E ast A sian countries, including J apan, C hina and T aiwan. Its symptoms are mixed hyper‐ and hypopigmented macules on the dorsal aspect of the hands and feet and freckle‐like macules on the face. The gene responsible for DSH has been identified as adenosine deaminase acting on RNA 1 ( ADAR 1 ). The ADAR 1 protein catalyzes the transformation of adenosine to inosine in ds RNA substrates (so‐called A ‐to‐ I editing) and is involved in various activities, such as viral inactivation, structural change of the protein and the resultant cell survival. However, its function in the skin and role in the development of DSH are still unknown. To date, more than 100 mutations of ADAR 1 have been reported in patients with DSH , and the catalytic domain deaminase is believed to be crucial to the activities of this gene. Some complications of DSH have been reported and, intriguingly, several patients have been reported to develop neurological symptoms, such as dystonia and mental deterioration. Because ADAR 1 plays various important roles in human tissue, we believe that a clarification of the pathogenesis of DSH will promote the understanding of the physiological functions of ADAR 1, which will have significant scientific implications.