Retrospective diagnosis of Kindler syndrome in a 37-year-old man
Summary Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival...
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| Veröffentlicht in: | Clinical and experimental dermatology 2006-01, Vol.31 (1), p.45-47 |
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| container_title | Clinical and experimental dermatology |
| container_volume | 31 |
| creator | Thomson, M. A. Ashton, G. H. S. McGrath, J. A. Eady, R. A. J. Moss, C. |
| description | Summary
Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years. |
| doi_str_mv | 10.1111/j.1365-2230.2005.01930.x |
| format | Article |
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Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years.</description><identifier>ISSN: 0307-6938</identifier><identifier>EISSN: 1365-2230</identifier><identifier>DOI: 10.1111/j.1365-2230.2005.01930.x</identifier><identifier>PMID: 16309479</identifier><identifier>CODEN: CEDEDE</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Ltd</publisher><subject>Adult ; Atrophy ; Biological and medical sciences ; Blister - diagnosis ; Blister - genetics ; Blister - pathology ; Dermatology ; Family Health ; Female ; Humans ; Infant, Newborn ; Male ; Medical sciences ; Membrane Proteins - genetics ; Mutation ; Neoplasm Proteins - genetics ; Pedigree ; Pigmentation Disorders - diagnosis ; Pigmentation Disorders - genetics ; Pigmentation Disorders - pathology ; Skin - pathology ; Skin involvement in other diseases. Miscellaneous. General aspects ; Syndrome</subject><ispartof>Clinical and experimental dermatology, 2006-01, Vol.31 (1), p.45-47</ispartof><rights>2006 INIST-CNRS</rights><rights>Copyright Blackwell Publishing Jan 2006</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4620-c88d45303a9d1fa59294bb17678111ca3690e5e8aeccd0c6e2bcdab6230610673</citedby><cites>FETCH-LOGICAL-c4620-c88d45303a9d1fa59294bb17678111ca3690e5e8aeccd0c6e2bcdab6230610673</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17474709$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16309479$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Thomson, M. A.</creatorcontrib><creatorcontrib>Ashton, G. H. S.</creatorcontrib><creatorcontrib>McGrath, J. A.</creatorcontrib><creatorcontrib>Eady, R. A. J.</creatorcontrib><creatorcontrib>Moss, C.</creatorcontrib><title>Retrospective diagnosis of Kindler syndrome in a 37-year-old man</title><title>Clinical and experimental dermatology</title><addtitle>Clin Exp Dermatol</addtitle><description>Summary
Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years.</description><subject>Adult</subject><subject>Atrophy</subject><subject>Biological and medical sciences</subject><subject>Blister - diagnosis</subject><subject>Blister - genetics</subject><subject>Blister - pathology</subject><subject>Dermatology</subject><subject>Family Health</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation</subject><subject>Neoplasm Proteins - genetics</subject><subject>Pedigree</subject><subject>Pigmentation Disorders - diagnosis</subject><subject>Pigmentation Disorders - genetics</subject><subject>Pigmentation Disorders - pathology</subject><subject>Skin - pathology</subject><subject>Skin involvement in other diseases. Miscellaneous. General aspects</subject><subject>Syndrome</subject><issn>0307-6938</issn><issn>1365-2230</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkF2LEzEUhoMobl39CxIEvZt6kswkkwtBresqlvUDxcWbkEnOSOp81KTdbf-9GVt2wSuTixzI8x7OeQihDOYsn-erOROyKjgXMOcA1RyYzuXuDpndfNwlMxCgCqlFfUIepLQCYIKp6j45YVKALpWekZdfcBPHtEa3CVdIfbA_hzGFRMeWfgiD7zDStB98HHukYaCWClXs0cZi7Dzt7fCQ3Gttl_DR8T0l396efV28K5Yfz98vXi0LV0oOhatrX1YChNWetbbSXJdNw5RUdV7IWSE1YIW1Rec8OIm8cd42Mi8iGUglTsmzQ991HH9vMW1MH5LDrrMDjttkFDClldAZfPIPuBq3ccizGQ6MSwl8guoD5PLyKWJr1jH0Nu4NAzMpNiszmTSTSTMpNn8Vm12OPj723zY9-tvg0WkGnh4Bm5zt2mgHF9Itp8p8YeJeHLjr0OH-vwcwi7M3U5XzxSEf0gZ3N3kbf5nsS1Xm-8W5ufh0-Xpx-WNpPos_9Iej5Q</recordid><startdate>200601</startdate><enddate>200601</enddate><creator>Thomson, M. A.</creator><creator>Ashton, G. H. S.</creator><creator>McGrath, J. A.</creator><creator>Eady, R. A. J.</creator><creator>Moss, C.</creator><general>Blackwell Science Ltd</general><general>Blackwell</general><general>Oxford University Press</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>200601</creationdate><title>Retrospective diagnosis of Kindler syndrome in a 37-year-old man</title><author>Thomson, M. A. ; Ashton, G. H. S. ; McGrath, J. A. ; Eady, R. A. J. ; Moss, C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4620-c88d45303a9d1fa59294bb17678111ca3690e5e8aeccd0c6e2bcdab6230610673</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Adult</topic><topic>Atrophy</topic><topic>Biological and medical sciences</topic><topic>Blister - diagnosis</topic><topic>Blister - genetics</topic><topic>Blister - pathology</topic><topic>Dermatology</topic><topic>Family Health</topic><topic>Female</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation</topic><topic>Neoplasm Proteins - genetics</topic><topic>Pedigree</topic><topic>Pigmentation Disorders - diagnosis</topic><topic>Pigmentation Disorders - genetics</topic><topic>Pigmentation Disorders - pathology</topic><topic>Skin - pathology</topic><topic>Skin involvement in other diseases. Miscellaneous. General aspects</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Thomson, M. A.</creatorcontrib><creatorcontrib>Ashton, G. H. S.</creatorcontrib><creatorcontrib>McGrath, J. A.</creatorcontrib><creatorcontrib>Eady, R. A. J.</creatorcontrib><creatorcontrib>Moss, C.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical and experimental dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Thomson, M. A.</au><au>Ashton, G. H. S.</au><au>McGrath, J. A.</au><au>Eady, R. A. J.</au><au>Moss, C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Retrospective diagnosis of Kindler syndrome in a 37-year-old man</atitle><jtitle>Clinical and experimental dermatology</jtitle><addtitle>Clin Exp Dermatol</addtitle><date>2006-01</date><risdate>2006</risdate><volume>31</volume><issue>1</issue><spage>45</spage><epage>47</epage><pages>45-47</pages><issn>0307-6938</issn><eissn>1365-2230</eissn><coden>CEDEDE</coden><abstract>Summary
Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years.</abstract><cop>Oxford, UK</cop><pub>Blackwell Science Ltd</pub><pmid>16309479</pmid><doi>10.1111/j.1365-2230.2005.01930.x</doi><tpages>3</tpages></addata></record> |
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| ispartof | Clinical and experimental dermatology, 2006-01, Vol.31 (1), p.45-47 |
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| source | MEDLINE; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
| subjects | Adult Atrophy Biological and medical sciences Blister - diagnosis Blister - genetics Blister - pathology Dermatology Family Health Female Humans Infant, Newborn Male Medical sciences Membrane Proteins - genetics Mutation Neoplasm Proteins - genetics Pedigree Pigmentation Disorders - diagnosis Pigmentation Disorders - genetics Pigmentation Disorders - pathology Skin - pathology Skin involvement in other diseases. Miscellaneous. General aspects Syndrome |
| title | Retrospective diagnosis of Kindler syndrome in a 37-year-old man |
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