遺伝性対側性色素異常症
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/12/06 17:54:26」(JST)
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Dyschromatosis symmetrica hereditaria (also known as "Reticulate acropigmentation of Dohi," and "Symmetrical dyschromatosis of the extremities") is a rare autosomally inherited dermatosis. It is characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.[1]:855. It presents primarily in the Japanese, but has also been found to affect individuals from Europe, India and the Caribbean.
Genetics[edit]
This disease is caused by mutation in the double stranded RNA specific adenosine deaminase (ADAR1) gene.[2] This gene is located on the long arm of chromosome 1 (1q21)
See also[edit]
References[edit]
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Zhang GL, Shi HJ, Shao MH, Li M, Mu HJ, Gu Y, Du XF, Xie P (2013) Mutations in the ADAR1 gene in 2 Chinese families with dyschromatosis symmetrica hereditaria. Genet Mol Res 12(AOP)
UpToDate Contents
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English Journal
- Mutations in the ADAR1 gene in 2 Chinese families with dyschromatosis symmetrica hereditaria.
- Zhang GL, Shi HJ, Shao MH, Li M, Mu HJ, Gu Y, Du XF, Xie P.SourceDepartment of Dermatology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, China zglamu@163.com.
- Genetics and molecular research : GMR.Genet Mol Res.2013 Jan 4;12(AOP). [Epub ahead of print]
- We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and to search for mutations in the ADAR1 gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all published articles regarding ADAR1 mutations re
- PMID 23315877
- What is the novel clinical finding in dyschromatosis symmetrica hereditaria?
- Tomita Y.SourceCommunity Clinic Kamisakuragi, Miyagi, Japan.
- The Journal of dermatology.J Dermatol.2013 Jan;40(1):85. doi: 10.1111/j.1346-8138.2012.01668.x. Epub 2012 Sep 14.
- PMID 22974199
Japanese Journal
- Dermoscopic features in a case of dyschromatosis symmetrica hereditaria
- OISO Naoki,MURATA Ichidai,HAYASHI Masahiro,AMATSU Akinori,YOSHIDA Masuki,SUZUKI Tamio,KAWADA Akira
- Journal of dermatology 38(1), 91-93, 2011-01-01
- NAID 10027902883
- Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria
- WANG Xiao-Peng,LIU Yan,WANG Jun-Min,XIAO Sheng-Xiang
- Journal of dermatology 37(12), 1051-1052, 2010-12-01
- NAID 10028276015
Related Links
- 体幹とくに背部にみられる網状.
Related Pictures
★リンクテーブル★
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- 英
- pigmentation disorder, disorder of skin color
- 同
- 皮膚色素異常症
- 関
- 色素沈着障害, シャンバーグ病, 色素欠乏性色素失調症
色素異常症 NDE.258
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- =acropigmentation symmetrica of Dohi
- いずれの疾患も多くの小さい色素斑と脱色斑(macules of hypo- and hyperpigmentation)が子供のうちに出現する。
参考文献
- 1. Textbook of Pediatric Dermatology 2nd edition, Wiley-Blackwell p.1031
[★]
- ラ
- dyschromatosis symmetrica hereditaria
- 同
- 対称性先端色素沈着症 acropigmentatio symmetrica
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- 関
- contralateral、symmetrical、symmetrically、symmetry
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