Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement
Epidermolysis bullosa (EB) is a rare inherited disease that causes epidermal fragility, blistering, and erosions. EB results from a variety of mutations in proteins of the skin and mucous membranes of the body. Mutations in plectin a protein involved in hemidesmosome integrity and function, are asso...
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| Veröffentlicht in: | Pediatric dermatology 2017-01, Vol.34 (1), p.e61-e64 |
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| container_title | Pediatric dermatology |
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| creator | Walker, Gregory D. Woody, Meghan Orrin, Elizabeth Mellerio, Jemima E. Levy, Moise L. |
| description | Epidermolysis bullosa (EB) is a rare inherited disease that causes epidermal fragility, blistering, and erosions. EB results from a variety of mutations in proteins of the skin and mucous membranes of the body. Mutations in plectin a protein involved in hemidesmosome integrity and function, are associated with subtypes of EB, including EB with pyloric atresia and EB with muscular dystrophy. We present two cases of EB with significant urologic involvement resulting from mutations in plectin. |
| doi_str_mv | 10.1111/pde.13026 |
| format | Article |
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EB results from a variety of mutations in proteins of the skin and mucous membranes of the body. Mutations in plectin a protein involved in hemidesmosome integrity and function, are associated with subtypes of EB, including EB with pyloric atresia and EB with muscular dystrophy. We present two cases of EB with significant urologic involvement resulting from mutations in plectin.</description><identifier>ISSN: 0736-8046</identifier><identifier>EISSN: 1525-1470</identifier><identifier>DOI: 10.1111/pde.13026</identifier><identifier>PMID: 27813154</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Case reports ; Ectodermal Dysplasia - diagnosis ; Ectodermal Dysplasia - genetics ; Epidermolysis bullosa ; Female ; Humans ; Infant, Newborn ; Male ; Muscular dystrophy ; Mutation ; Plectin - genetics ; Pyloric atresia ; Skin ; Skin - pathology ; Urologic Diseases - diagnosis ; Urologic Diseases - genetics ; Young Adult</subject><ispartof>Pediatric dermatology, 2017-01, Vol.34 (1), p.e61-e64</ispartof><rights>2016 Wiley Periodicals, Inc.</rights><rights>Copyright © 2017 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3206-a82256a8ef9bb4b62a47c5a0873f792014d8f19d55676aaf2732b2d6c03da97d3</citedby><cites>FETCH-LOGICAL-c3206-a82256a8ef9bb4b62a47c5a0873f792014d8f19d55676aaf2732b2d6c03da97d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpde.13026$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpde.13026$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,778,782,1414,27907,27908,45557,45558</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27813154$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Walker, Gregory D.</creatorcontrib><creatorcontrib>Woody, Meghan</creatorcontrib><creatorcontrib>Orrin, Elizabeth</creatorcontrib><creatorcontrib>Mellerio, Jemima E.</creatorcontrib><creatorcontrib>Levy, Moise L.</creatorcontrib><title>Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement</title><title>Pediatric dermatology</title><addtitle>Pediatr Dermatol</addtitle><description>Epidermolysis bullosa (EB) is a rare inherited disease that causes epidermal fragility, blistering, and erosions. EB results from a variety of mutations in proteins of the skin and mucous membranes of the body. Mutations in plectin a protein involved in hemidesmosome integrity and function, are associated with subtypes of EB, including EB with pyloric atresia and EB with muscular dystrophy. We present two cases of EB with significant urologic involvement resulting from mutations in plectin.</description><subject>Case reports</subject><subject>Ectodermal Dysplasia - diagnosis</subject><subject>Ectodermal Dysplasia - genetics</subject><subject>Epidermolysis bullosa</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Muscular dystrophy</subject><subject>Mutation</subject><subject>Plectin - genetics</subject><subject>Pyloric atresia</subject><subject>Skin</subject><subject>Skin - pathology</subject><subject>Urologic Diseases - diagnosis</subject><subject>Urologic Diseases - genetics</subject><subject>Young Adult</subject><issn>0736-8046</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kEFPwjAUgBujEUQP_gGzxJOHQdut7XZERCUhgUQ5N93aYcm2YrtB9u-tDr35Lu_yve8lHwC3CI6Rn8leqjGKIKZnYIgIJiGKGTwHQ8giGiYwpgNw5dwOQphQii7BALMERYjEQ7Ca77VUtjJl57QLHtuyNE4ER918BOuuNFbnwbSxymkRiFoGb3pb60Lnom6CjTWl2XpgUR9MeVCVqptrcFGI0qmb0x6BzfP8ffYaLlcvi9l0GeYRhjQUCcaEikQVaZbFGcUiZjkRMGFRwVIMUSyTAqWSEMqoEAVmEc6wpDmMpEiZjEbgvvfurflslWv4zrS29i858veEEMRSTz30VG6Nc1YVfG91JWzHEeTf6bhPx3_SefbuZGyzSsk_8reVByY9cNSl6v438fXTvFd-AXXYd44</recordid><startdate>201701</startdate><enddate>201701</enddate><creator>Walker, Gregory D.</creator><creator>Woody, Meghan</creator><creator>Orrin, Elizabeth</creator><creator>Mellerio, Jemima E.</creator><creator>Levy, Moise L.</creator><general>Wiley Subscription Services, Inc</general><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>NAPCQ</scope></search><sort><creationdate>201701</creationdate><title>Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement</title><author>Walker, Gregory D. ; Woody, Meghan ; Orrin, Elizabeth ; Mellerio, Jemima E. ; Levy, Moise L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3206-a82256a8ef9bb4b62a47c5a0873f792014d8f19d55676aaf2732b2d6c03da97d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Case reports</topic><topic>Ectodermal Dysplasia - diagnosis</topic><topic>Ectodermal Dysplasia - genetics</topic><topic>Epidermolysis bullosa</topic><topic>Female</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Muscular dystrophy</topic><topic>Mutation</topic><topic>Plectin - genetics</topic><topic>Pyloric atresia</topic><topic>Skin</topic><topic>Skin - pathology</topic><topic>Urologic Diseases - diagnosis</topic><topic>Urologic Diseases - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Walker, Gregory D.</creatorcontrib><creatorcontrib>Woody, Meghan</creatorcontrib><creatorcontrib>Orrin, Elizabeth</creatorcontrib><creatorcontrib>Mellerio, Jemima E.</creatorcontrib><creatorcontrib>Levy, Moise L.</creatorcontrib><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>Nursing & Allied Health Premium</collection><jtitle>Pediatric dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Walker, Gregory D.</au><au>Woody, Meghan</au><au>Orrin, Elizabeth</au><au>Mellerio, Jemima E.</au><au>Levy, Moise L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement</atitle><jtitle>Pediatric dermatology</jtitle><addtitle>Pediatr Dermatol</addtitle><date>2017-01</date><risdate>2017</risdate><volume>34</volume><issue>1</issue><spage>e61</spage><epage>e64</epage><pages>e61-e64</pages><issn>0736-8046</issn><eissn>1525-1470</eissn><abstract>Epidermolysis bullosa (EB) is a rare inherited disease that causes epidermal fragility, blistering, and erosions. EB results from a variety of mutations in proteins of the skin and mucous membranes of the body. Mutations in plectin a protein involved in hemidesmosome integrity and function, are associated with subtypes of EB, including EB with pyloric atresia and EB with muscular dystrophy. We present two cases of EB with significant urologic involvement resulting from mutations in plectin.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>27813154</pmid><doi>10.1111/pde.13026</doi><tpages>4</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Case reports Ectodermal Dysplasia - diagnosis Ectodermal Dysplasia - genetics Epidermolysis bullosa Female Humans Infant, Newborn Male Muscular dystrophy Mutation Plectin - genetics Pyloric atresia Skin Skin - pathology Urologic Diseases - diagnosis Urologic Diseases - genetics Young Adult |
| title | Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement |
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