遺伝性汎発性色素異常症
WordNet
- applicable to or common to all members of a group or set; "the play opened to universal acclaim"; "rap enjoys universal appeal among teenage boys"
- (linguistics) a grammatical rule (or other linguistic feature) that is found in all languages (同)linguistic universal
- (logic) a proposition that asserts something of all members of a class (同)universal proposition
- a behavioral convention or pattern characteristic of all members of a particular culture or of all human beings; "some form of religion seems to be a human universal"
- adapted to various purposes, sizes, forms, operations; "universal wrench", "universal chuck"; "universal screwdriver"
PrepTutorEJDIC
- 『すべての人々の』,万人共通の;全世界の / 普遍的な,一般的な,全般的な
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/08/02 03:40:39」(JST)
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Dyschromatosis universalis hereditaria |
Classification and external resources |
OMIM |
127500 |
DiseasesDB |
32816 |
Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and hypo- pigmentated macules in a generalized distribution.[1]:856
Both autosomal dominant and recessive inheritance have been reported with the disorder.[2]
External links[edit]
- Dyschromatosis universalis hereditaria: Two cases, Dermatology Online Journal.
References[edit]
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Stuhrmann M, Hennies HC, Bukhari IA, Brakensiek K, Nürnberg G, Becker C, Huebener J, Miranda MC, Frye-Boukhriss H, Knothe S, Schmidtke J, El-Harith EH (June 2008). "Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23". Clinical genetics 73 (6): 566–572. doi:10.1111/j.1399-0004.2008.01000.x. PMID 18462451.
UpToDate Contents
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English Journal
- Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria.
- Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, Tian Y, Ren W, Mei A, Zhang Q, Fang M, Su Z, Yin Y, Liu D, Chen Y, Cui X, Li C, Yang H, Wang Q, Wang J, Liu M, Deng Y.Source1] Core Laboratory, Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China [2] Department of Dermatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
- The Journal of investigative dermatology.J Invest Dermatol.2013 Sep;133(9):2221-8. doi: 10.1038/jid.2013.145. Epub 2013 Mar 21.
- Dyschromatosis universalis hereditaria (DUH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body. No causative genes have been reported to date. In this study, we investigated a large five-generation Chinese family
- PMID 23519333
- Effects of idebenone on color vision in patients with leber hereditary optic neuropathy.
- Rudolph G, Dimitriadis K, Büchner B, Heck S, Al-Tamami J, Seidensticker F, Rummey C, Leinonen M, Meier T, Klopstock T.SourceDepartment of Ophthalmology (GR, FS), Ludwig-Maximilians-University, Munich, Germany.
- Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.J Neuroophthalmol.2013 Mar;33(1):30-6. doi: 10.1097/WNO.0b013e318272c643.
- BACKGROUND: The authors investigated the correlation of protan and tritan color vision with disease characteristics in Leber hereditary optic neuropathy (LHON). The authors also characterized the therapeutic potential of idebenone in protecting patients from developing dyschromatopsia in LHON.METHOD
- PMID 23263355
- Photoletter to the editor: Dyschromatosis universalis hereditaria: an infrequently occurring entity in Europe.
- Merino de Paz N, Rodríguez-Martin M, Contreras Ferrer P, Pestana-Eliche M, Martin-Herrera A, Noda-Cabrera A.SourceDepartment of Dermatology, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain.
- Journal of dermatological case reports.J Dermatol Case Rep.2012 Sep 28;6(3):96-7. doi: 10.3315/jdcr.2012.1112.
- Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis mainly described in asian subjects. Here, we report a case of a caucasian 11-year-old boy with DUH and an unaffected twin brother. Parents were not consanguineous. A review of the main phenotical, clinical and hystological aspects
- PMID 23091589
Japanese Journal
- Dyschromatosis universalis hereditaria : A unique disorder
- Dyschromatosis Universalis Hereditaria : An Electron Microscopic Examination
- KIM Nam Soo,IM Sungbin,KIM Soo-Chan
- Journal of dermatology 24(3), 161-164, 1997-03-01
- NAID 10016265202
Related Links
- Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We describe two Tunisian cases of dyschromatosis universalis ...
★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
-
- =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
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- ラ
- dyschromatosis universalis hereditaria DUH
- 関
- 遺伝性対側性色素異常症、色素異常症
身体所見
- 低身長、難聴、光過敏性、赤血球・血小板・トリプトファン代謝の異常。(1)
参考文献
- 1. Textbook of Pediatric Dermatology 2nd edition, Wiley-Blackwell p.1031
[★]
[★]
[★]
- 関
- general、generally、generic、generically、popular、prevailing、universally
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