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Dyschromatosis symmetrica hereditaria
Masahiro Hayashi1, Tamio Suzuki
1Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.
The Journal of Dermatology
|September 15, 2012
Summary
Dyschromatosis symmetrica hereditaria (DSH) is a rare genetic skin disorder caused by mutations in the ADAR1 gene. Understanding DSH pathogenesis may reveal ADAR1
Area of Science:
- Genetics and Dermatology
- Molecular Biology
- Human Physiology
Background:
- Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant genodermatosis.
- Characterized by hyper- and hypopigmented macules on extremities and face.
- Most reported cases are from East Asian populations.
Purpose of the Study:
- To investigate the role of adenosine deaminase acting on RNA1 (ADAR1) in DSH pathogenesis.
- To elucidate the function of ADAR1 in skin physiology.
- To understand the implications of ADAR1 mutations in DSH development.
Main Methods:
- Review of existing literature on DSH and ADAR1 mutations.
- Analysis of reported clinical and genetic data from DSH patients.
- Exploration of ADAR1's known molecular functions (A-to-I editing).
Main Results:
- ADAR1 gene mutations are identified as the cause of DSH.
- Over 100 ADAR1 mutations have been reported in DSH patients.
- The catalytic deaminase domain of ADAR1 is implicated in DSH.
Conclusions:
- Clarifying DSH pathogenesis will enhance understanding of ADAR1's physiological roles.
- ADAR1's function in skin and its link to DSH remain largely unknown.
- Research into DSH has significant implications for understanding ADAR1's broader functions.
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