Dyschromatosis symmetrica hereditaria
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterised by a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the hands and feet. The majority of cases of this condition have been reported in East Asian countries such a...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Journal of Clinical and Scientific Research |
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| Online Access: | https://journals.lww.com/10.4103/jcsr.jcsr_36_23 |
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| author | K. Geetha |
| author_facet | K. Geetha |
| author_sort | K. Geetha |
| collection | DOAJ |
| description | Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterised by a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the hands and feet. The majority of cases of this condition have been reported in East Asian countries such as Japan, China and Taiwan. The gene responsible for DSH has been identified as adenosine deaminase acting on ribonucleic acid1 (ADAR1). To date, more than 100 ADAR1 mutations have been reported in DSH patients, and the catalytic domain deaminase is thought to be critical to the gene’s activities. We report a case of DSH, a rare cutaneous disease with classic clinical manifestations and a family history of similar illness. The skin lesions were characterised by a mixture of hyperpigmented and hypopigmented macules and were localised on the dorsum of the hands and feet of three persons of the same family. |
| format | Article |
| id | doaj-art-6ec14af32fac4891a620588bb684a108 |
| institution | Kabale University |
| issn | 2277-5706 2277-8357 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Clinical and Scientific Research |
| spelling | doaj-art-6ec14af32fac4891a620588bb684a1082025-01-11T09:44:39ZengWolters Kluwer Medknow PublicationsJournal of Clinical and Scientific Research2277-57062277-83572024-12-0113Suppl 1S15S1710.4103/jcsr.jcsr_36_23Dyschromatosis symmetrica hereditariaK. GeethaDyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterised by a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the hands and feet. The majority of cases of this condition have been reported in East Asian countries such as Japan, China and Taiwan. The gene responsible for DSH has been identified as adenosine deaminase acting on ribonucleic acid1 (ADAR1). To date, more than 100 ADAR1 mutations have been reported in DSH patients, and the catalytic domain deaminase is thought to be critical to the gene’s activities. We report a case of DSH, a rare cutaneous disease with classic clinical manifestations and a family history of similar illness. The skin lesions were characterised by a mixture of hyperpigmented and hypopigmented macules and were localised on the dorsum of the hands and feet of three persons of the same family.https://journals.lww.com/10.4103/jcsr.jcsr_36_23acropigmentation of dohidyschromatosis symmetrica hereditariapigmentary genodermatosis |
| spellingShingle | K. Geetha Dyschromatosis symmetrica hereditaria Journal of Clinical and Scientific Research acropigmentation of dohi dyschromatosis symmetrica hereditaria pigmentary genodermatosis |
| title | Dyschromatosis symmetrica hereditaria |
| title_full | Dyschromatosis symmetrica hereditaria |
| title_fullStr | Dyschromatosis symmetrica hereditaria |
| title_full_unstemmed | Dyschromatosis symmetrica hereditaria |
| title_short | Dyschromatosis symmetrica hereditaria |
| title_sort | dyschromatosis symmetrica hereditaria |
| topic | acropigmentation of dohi dyschromatosis symmetrica hereditaria pigmentary genodermatosis |
| url | https://journals.lww.com/10.4103/jcsr.jcsr_36_23 |
| work_keys_str_mv | AT kgeetha dyschromatosissymmetricahereditaria |