Autosomal dominant erythromelalgia
We present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature. No successful treatment has been...
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Veröffentlicht in: | American journal of medical genetics 1992-02, Vol.42 (3), p.310-315 |
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container_title | American journal of medical genetics |
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creator | Finley, W. H. Lindsey Jr, J. R. Fine, J.-D. Dixon, G. A. Burbank, M. K. |
description | We present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature. No successful treatment has been identified, and the pathogenetic mechanism has not been established. Most affected individuals are female. |
doi_str_mv | 10.1002/ajmg.1320420310 |
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Most affected individuals are female.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320420310</identifier><identifier>PMID: 1536168</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Anti-Inflammatory Agents - therapeutic use ; autosomal dominant ; Biological and medical sciences ; Child ; Dermatology ; Erythromelalgia ; Erythromelalgia - genetics ; Erythromelalgia - physiopathology ; Erythromelalgia - therapy ; Female ; Genes, Dominant ; Genetic Variation ; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue ; Humans ; Inflammation - drug therapy ; limb redness ; limbs ; Male ; Medical sciences ; Middle Aged ; pain ; Pedigree</subject><ispartof>American journal of medical genetics, 1992-02, Vol.42 (3), p.310-315</ispartof><rights>Copyright © 1992 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1992 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4420-37fd0127e31cc60dc0fefcac51e6fd74997f600b4f0649c1c2e6da47b5351c3d3</citedby><cites>FETCH-LOGICAL-c4420-37fd0127e31cc60dc0fefcac51e6fd74997f600b4f0649c1c2e6da47b5351c3d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5169117$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1536168$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Finley, W. H.</creatorcontrib><creatorcontrib>Lindsey Jr, J. R.</creatorcontrib><creatorcontrib>Fine, J.-D.</creatorcontrib><creatorcontrib>Dixon, G. A.</creatorcontrib><creatorcontrib>Burbank, M. K.</creatorcontrib><title>Autosomal dominant erythromelalgia</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature. No successful treatment has been identified, and the pathogenetic mechanism has not been established. Most affected individuals are female.</description><subject>Adult</subject><subject>Anti-Inflammatory Agents - therapeutic use</subject><subject>autosomal dominant</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Dermatology</subject><subject>Erythromelalgia</subject><subject>Erythromelalgia - genetics</subject><subject>Erythromelalgia - physiopathology</subject><subject>Erythromelalgia - therapy</subject><subject>Female</subject><subject>Genes, Dominant</subject><subject>Genetic Variation</subject><subject>Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</subject><subject>Humans</subject><subject>Inflammation - drug therapy</subject><subject>limb redness</subject><subject>limbs</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>pain</subject><subject>Pedigree</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkLtPwzAQxi0EgvKYmZAQQmyhd3ZiJ2KqCrSgAgsINst1bEjJo9iJoP89KalATJ3udPf77vERcohwjgC0r2bF6zkyCiEFhrBBeggJD2JO403SAwzjQNAk2SG73s8AsC3QbbKNEePI4x45GTR15atC5cdpVWSlKutj4xb1m6sKk6v8NVP7ZMuq3JuDVdwjT9dXj8NxMHkY3QwHk0CH7fKACZsCUmEYas0h1WCN1UpHaLhNRZgkwnKAaWiBh4lGTQ1PVSimEYtQs5TtkbNu7txVH43xtSwyr02eq9JUjZeCxstH-VoQOcRJ-AP2O1C7yntnrJy7rFBuIRHk0j65tE_-2dcqjlajm2lh0j--86vtn676ymuVW6dKnflfLEKeIIoWu-iwzyw3i3Vb5eD2bvTviKBTZ742X79q5d4lF0xE8vl-JMdtii-XE_nMvgGwp5b7</recordid><startdate>19920201</startdate><enddate>19920201</enddate><creator>Finley, W. 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Haemangioma of the skin, of mucosae and of soft tissue</topic><topic>Humans</topic><topic>Inflammation - drug therapy</topic><topic>limb redness</topic><topic>limbs</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>pain</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Finley, W. H.</creatorcontrib><creatorcontrib>Lindsey Jr, J. R.</creatorcontrib><creatorcontrib>Fine, J.-D.</creatorcontrib><creatorcontrib>Dixon, G. A.</creatorcontrib><creatorcontrib>Burbank, M. 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K.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Autosomal dominant erythromelalgia</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1992-02-01</date><risdate>1992</risdate><volume>42</volume><issue>3</issue><spage>310</spage><epage>315</epage><pages>310-315</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature. No successful treatment has been identified, and the pathogenetic mechanism has not been established. Most affected individuals are female.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>1536168</pmid><doi>10.1002/ajmg.1320420310</doi><tpages>6</tpages></addata></record> |
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subjects | Adult Anti-Inflammatory Agents - therapeutic use autosomal dominant Biological and medical sciences Child Dermatology Erythromelalgia Erythromelalgia - genetics Erythromelalgia - physiopathology Erythromelalgia - therapy Female Genes, Dominant Genetic Variation Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Humans Inflammation - drug therapy limb redness limbs Male Medical sciences Middle Aged pain Pedigree |
title | Autosomal dominant erythromelalgia |
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