Kindler syndrome
Summary Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal–...
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Veröffentlicht in: | Clinical and experimental dermatology 2004-03, Vol.29 (2), p.116-121 |
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description | Summary
Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal–epidermal junction. The molecular pathology underlying Kindler syndrome has recently been shown to involve loss‐of‐function mutations in a novel gene, KIND1, encoding kindlin‐1. Immunofluorescence, gene expression and cell biology studies have shown that kindlin‐1 is expressed mainly in basal keratinocytes and plays a role in the attachment of the actin cytoskeleton via focal contacts to the extracellular matrix. Thus, Kindler syndrome is the first genodermatosis caused by a defect in actin–extracellular matrix linkage rather than the classic keratin–extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa. This article reviews the clinical features as well as the molecular and cellular pathology of Kindler syndrome and highlights the importance of the new protein, kindlin‐1, in cell‐matrix adhesion and its intriguing link to photosensitivity. |
doi_str_mv | 10.1111/j.1365-2230.2004.01465.x |
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Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal–epidermal junction. The molecular pathology underlying Kindler syndrome has recently been shown to involve loss‐of‐function mutations in a novel gene, KIND1, encoding kindlin‐1. Immunofluorescence, gene expression and cell biology studies have shown that kindlin‐1 is expressed mainly in basal keratinocytes and plays a role in the attachment of the actin cytoskeleton via focal contacts to the extracellular matrix. Thus, Kindler syndrome is the first genodermatosis caused by a defect in actin–extracellular matrix linkage rather than the classic keratin–extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa. This article reviews the clinical features as well as the molecular and cellular pathology of Kindler syndrome and highlights the importance of the new protein, kindlin‐1, in cell‐matrix adhesion and its intriguing link to photosensitivity.</description><identifier>ISSN: 0307-6938</identifier><identifier>EISSN: 1365-2230</identifier><identifier>DOI: 10.1111/j.1365-2230.2004.01465.x</identifier><identifier>PMID: 14987263</identifier><identifier>CODEN: CEDEDE</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Ltd</publisher><subject>Biological and medical sciences ; Biopsy ; Blister - genetics ; Blister - pathology ; Dermatology ; Extracellular Matrix Proteins - chemistry ; Extracellular Matrix Proteins - genetics ; Extracellular Matrix Proteins - metabolism ; Humans ; Medical sciences ; Membrane Proteins ; Neoplasm Proteins ; Photosensitivity Disorders - genetics ; Photosensitivity Disorders - pathology ; Rothmund-Thomson Syndrome - genetics ; Rothmund-Thomson Syndrome - pathology ; Skin - pathology ; Skin involvement in other diseases. Miscellaneous. General aspects ; Syndrome</subject><ispartof>Clinical and experimental dermatology, 2004-03, Vol.29 (2), p.116-121</ispartof><rights>2004 INIST-CNRS</rights><rights>Copyright Blackwell Science Ltd. Mar 2004</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4895-133553ca56c59227227cd4f158d85340a3f6451eff614bb8f45206c346142b963</citedby><cites>FETCH-LOGICAL-c4895-133553ca56c59227227cd4f158d85340a3f6451eff614bb8f45206c346142b963</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15556456$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14987263$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ashton, G. H. S.</creatorcontrib><title>Kindler syndrome</title><title>Clinical and experimental dermatology</title><addtitle>Clin Exp Dermatol</addtitle><description>Summary
Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal–epidermal junction. The molecular pathology underlying Kindler syndrome has recently been shown to involve loss‐of‐function mutations in a novel gene, KIND1, encoding kindlin‐1. Immunofluorescence, gene expression and cell biology studies have shown that kindlin‐1 is expressed mainly in basal keratinocytes and plays a role in the attachment of the actin cytoskeleton via focal contacts to the extracellular matrix. Thus, Kindler syndrome is the first genodermatosis caused by a defect in actin–extracellular matrix linkage rather than the classic keratin–extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa. This article reviews the clinical features as well as the molecular and cellular pathology of Kindler syndrome and highlights the importance of the new protein, kindlin‐1, in cell‐matrix adhesion and its intriguing link to photosensitivity.</description><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Blister - genetics</subject><subject>Blister - pathology</subject><subject>Dermatology</subject><subject>Extracellular Matrix Proteins - chemistry</subject><subject>Extracellular Matrix Proteins - genetics</subject><subject>Extracellular Matrix Proteins - metabolism</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Membrane Proteins</subject><subject>Neoplasm Proteins</subject><subject>Photosensitivity Disorders - genetics</subject><subject>Photosensitivity Disorders - pathology</subject><subject>Rothmund-Thomson Syndrome - genetics</subject><subject>Rothmund-Thomson Syndrome - 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>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMtKAzEUhoMoWqvgE4gIupsxt5PMLFxIvVsvC8XlIc1kYOp0piYW27c3Y4uCK0MgCfn-wzkfIQeMpiyuk3HKhIKEc0FTTqlMKZMK0vka6f18rJMeFVQnKhfZFtkOYUwpE0zDJtliMs80V6JH9u6qpqidPwiLpvDtxO2QjdLUwe2uzj55ubx4Hlwnw8erm8HZMLEyyyFhQgAIa0BZyDnXcdtClgyyIgMhqRGlksBcWSomR6OslMCpskLGJx_lSvTJ8bLu1LfvMxc-cFIF6-raNK6dBdRMaa2ViODhH3DcznwTe0NOGYcspx2ULSHr2xC8K3Hqq4nxC2QUO2U4xs4MdmawU4bfynAeo_ur-rPRxBW_wZWjCBytABOsqUtvGluFXw4A4qjdRKdL7rOq3eLfDeDg4ry7xXyyzFfhw81_8sa_odJCA74-XOHt8xNX9PYeX8UX5CGRKQ</recordid><startdate>200403</startdate><enddate>200403</enddate><creator>Ashton, G. H. S.</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>200403</creationdate><title>Kindler syndrome</title><author>Ashton, G. H. S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4895-133553ca56c59227227cd4f158d85340a3f6451eff614bb8f45206c346142b963</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>Blister - genetics</topic><topic>Blister - pathology</topic><topic>Dermatology</topic><topic>Extracellular Matrix Proteins - chemistry</topic><topic>Extracellular Matrix Proteins - genetics</topic><topic>Extracellular Matrix Proteins - metabolism</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Membrane Proteins</topic><topic>Neoplasm Proteins</topic><topic>Photosensitivity Disorders - genetics</topic><topic>Photosensitivity Disorders - pathology</topic><topic>Rothmund-Thomson Syndrome - genetics</topic><topic>Rothmund-Thomson Syndrome - 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>Ashton, G. H. S.</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>Ashton, G. H. S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Kindler syndrome</atitle><jtitle>Clinical and experimental dermatology</jtitle><addtitle>Clin Exp Dermatol</addtitle><date>2004-03</date><risdate>2004</risdate><volume>29</volume><issue>2</issue><spage>116</spage><epage>121</epage><pages>116-121</pages><issn>0307-6938</issn><eissn>1365-2230</eissn><coden>CEDEDE</coden><abstract>Summary
Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal–epidermal junction. The molecular pathology underlying Kindler syndrome has recently been shown to involve loss‐of‐function mutations in a novel gene, KIND1, encoding kindlin‐1. Immunofluorescence, gene expression and cell biology studies have shown that kindlin‐1 is expressed mainly in basal keratinocytes and plays a role in the attachment of the actin cytoskeleton via focal contacts to the extracellular matrix. Thus, Kindler syndrome is the first genodermatosis caused by a defect in actin–extracellular matrix linkage rather than the classic keratin–extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa. This article reviews the clinical features as well as the molecular and cellular pathology of Kindler syndrome and highlights the importance of the new protein, kindlin‐1, in cell‐matrix adhesion and its intriguing link to photosensitivity.</abstract><cop>Oxford, UK</cop><pub>Blackwell Science Ltd</pub><pmid>14987263</pmid><doi>10.1111/j.1365-2230.2004.01465.x</doi><tpages>6</tpages></addata></record> |
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source | MEDLINE; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
subjects | Biological and medical sciences Biopsy Blister - genetics Blister - pathology Dermatology Extracellular Matrix Proteins - chemistry Extracellular Matrix Proteins - genetics Extracellular Matrix Proteins - metabolism Humans Medical sciences Membrane Proteins Neoplasm Proteins Photosensitivity Disorders - genetics Photosensitivity Disorders - pathology Rothmund-Thomson Syndrome - genetics Rothmund-Thomson Syndrome - pathology Skin - pathology Skin involvement in other diseases. Miscellaneous. General aspects Syndrome |
title | Kindler syndrome |
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