Diagnosing Epidermolysis Bullosa Type and Subtype in Infancy Using Immunofluorescence Microscopy: The Stanford Experience
The natural history of inherited epidermolysis bullosa (EB) varies significantly across subtypes. When confronted with an infant suspected to have EB, rapidly determining the type and subtype is critical in counselling families accurately about the infant's diagnosis and prognosis. Although tra...
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| Veröffentlicht in: | Pediatric dermatology 2013-03, Vol.30 (2), p.226-233 |
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| creator | Berk, David R. Jazayeri, Leila Marinkovich, M. Peter Sundram, Uma N. Bruckner, Anna L. |
| description | The natural history of inherited epidermolysis bullosa (EB) varies significantly across subtypes. When confronted with an infant suspected to have EB, rapidly determining the type and subtype is critical in counselling families accurately about the infant's diagnosis and prognosis. Although transmission electron microscopy (TEM) has been considered the criterion standard for EB diagnosis, immunofluorescence microscopy (IFM) using monoclonal antibodies (mAbs) to EB‐specific basement membrane zone proteins has several advantages, but few studies have evaluated the diagnostic utility of IFM. We sought to evaluate the clinical utility of IFM using an expanded panel of EB‐specific mAbs. This was a retrospective review of pathology reports from infants younger |
| doi_str_mv | 10.1111/j.1525-1470.2012.01880.x |
| format | Article |
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Peter ; Sundram, Uma N. ; Bruckner, Anna L.</creator><creatorcontrib>Berk, David R. ; Jazayeri, Leila ; Marinkovich, M. Peter ; Sundram, Uma N. ; Bruckner, Anna L.</creatorcontrib><description>The natural history of inherited epidermolysis bullosa (EB) varies significantly across subtypes. When confronted with an infant suspected to have EB, rapidly determining the type and subtype is critical in counselling families accurately about the infant's diagnosis and prognosis. Although transmission electron microscopy (TEM) has been considered the criterion standard for EB diagnosis, immunofluorescence microscopy (IFM) using monoclonal antibodies (mAbs) to EB‐specific basement membrane zone proteins has several advantages, but few studies have evaluated the diagnostic utility of IFM. We sought to evaluate the clinical utility of IFM using an expanded panel of EB‐specific mAbs. This was a retrospective review of pathology reports from infants younger < 1 year old with suspected EB primarily analyzed with IFM by the Stanford Dermatopathology service. Seventy‐seven cases were identified for analysis, of which 20 were suboptimal for IFM analysis. Fifty‐five cases were diagnosed with EB and classified as follows: EB simplex (n = 5), junctional EB (n = 31), dystrophic EB (n = 19). TEM was available in 36 of 55 cases (65%). IFM with an expanded panel of EB‐specific mAbs should be considered the first‐line diagnostic test to evaluate infants with clinically suspected EB.</description><identifier>ISSN: 0736-8046</identifier><identifier>EISSN: 1525-1470</identifier><identifier>DOI: 10.1111/j.1525-1470.2012.01880.x</identifier><identifier>PMID: 23461686</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Epidermolysis Bullosa - pathology ; Humans ; Infant ; Microscopy, Electron, Transmission - methods ; Microscopy, Fluorescence - methods ; Retrospective Studies ; Skin - pathology</subject><ispartof>Pediatric dermatology, 2013-03, Vol.30 (2), p.226-233</ispartof><rights>2013 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1525-1470.2012.01880.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1525-1470.2012.01880.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,782,786,1419,27931,27932,45581,45582</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23461686$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Berk, David R.</creatorcontrib><creatorcontrib>Jazayeri, Leila</creatorcontrib><creatorcontrib>Marinkovich, M. Peter</creatorcontrib><creatorcontrib>Sundram, Uma N.</creatorcontrib><creatorcontrib>Bruckner, Anna L.</creatorcontrib><title>Diagnosing Epidermolysis Bullosa Type and Subtype in Infancy Using Immunofluorescence Microscopy: The Stanford Experience</title><title>Pediatric dermatology</title><addtitle>Pediatr Dermatol</addtitle><description>The natural history of inherited epidermolysis bullosa (EB) varies significantly across subtypes. When confronted with an infant suspected to have EB, rapidly determining the type and subtype is critical in counselling families accurately about the infant's diagnosis and prognosis. Although transmission electron microscopy (TEM) has been considered the criterion standard for EB diagnosis, immunofluorescence microscopy (IFM) using monoclonal antibodies (mAbs) to EB‐specific basement membrane zone proteins has several advantages, but few studies have evaluated the diagnostic utility of IFM. We sought to evaluate the clinical utility of IFM using an expanded panel of EB‐specific mAbs. This was a retrospective review of pathology reports from infants younger < 1 year old with suspected EB primarily analyzed with IFM by the Stanford Dermatopathology service. Seventy‐seven cases were identified for analysis, of which 20 were suboptimal for IFM analysis. Fifty‐five cases were diagnosed with EB and classified as follows: EB simplex (n = 5), junctional EB (n = 31), dystrophic EB (n = 19). TEM was available in 36 of 55 cases (65%). IFM with an expanded panel of EB‐specific mAbs should be considered the first‐line diagnostic test to evaluate infants with clinically suspected EB.</description><subject>Epidermolysis Bullosa - pathology</subject><subject>Humans</subject><subject>Infant</subject><subject>Microscopy, Electron, Transmission - methods</subject><subject>Microscopy, Fluorescence - methods</subject><subject>Retrospective Studies</subject><subject>Skin - pathology</subject><issn>0736-8046</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kVFv0zAUhS0EYt3gLyA_8pLMjuObGIkHWMso6gZaO_FouYk9XBI72I3W_Psl66hffHXvd-yrcxDClKR0PJe7lPKMJzQvSJoRmqWEliVJD6_Q7DR4jWakYJCUJIczdB7jjhBSAtC36CxjOVAoYYaGuVUPzkfrHvCis7UOrW-GaCP-2jeNjwpvhk5j5Wq87rf7qbYOL51Rrhrw_bNu2ba986bpfdCx0q7S-MZWwcfKd8MnvPmj8XqvnPGhxotDp4OdmHfojVFN1O9f7gt0_22xufqerH5eL6--rBLLCCMJE5UylDCTGQUZUM0zAEFEvhWsNhoMqK0qVC7GvoAadMGJMCzjdVHy2jB2gT4e3-2C_9fruJetHbdsGuW076OkjHLKGBcwoh9e0H7b6lp2wbYqDPK_XSPw-Qg82kYPpzklcopF7uTkvpzcl1Ms8jkWeZC_5oupGvXJUW_jXh9OehX-SihYweXv22v5446txHx9N377BN34kMQ</recordid><startdate>201303</startdate><enddate>201303</enddate><creator>Berk, David R.</creator><creator>Jazayeri, Leila</creator><creator>Marinkovich, M. Peter</creator><creator>Sundram, Uma N.</creator><creator>Bruckner, Anna L.</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201303</creationdate><title>Diagnosing Epidermolysis Bullosa Type and Subtype in Infancy Using Immunofluorescence Microscopy: The Stanford Experience</title><author>Berk, David R. ; Jazayeri, Leila ; Marinkovich, M. Peter ; Sundram, Uma N. ; Bruckner, Anna L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-i3030-39caf103f2fa6261e52669094b93dfe6f6aba7a4952696d6e7509f325d785df33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Epidermolysis Bullosa - pathology</topic><topic>Humans</topic><topic>Infant</topic><topic>Microscopy, Electron, Transmission - methods</topic><topic>Microscopy, Fluorescence - methods</topic><topic>Retrospective Studies</topic><topic>Skin - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Berk, David R.</creatorcontrib><creatorcontrib>Jazayeri, Leila</creatorcontrib><creatorcontrib>Marinkovich, M. Peter</creatorcontrib><creatorcontrib>Sundram, Uma N.</creatorcontrib><creatorcontrib>Bruckner, Anna L.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Berk, David R.</au><au>Jazayeri, Leila</au><au>Marinkovich, M. Peter</au><au>Sundram, Uma N.</au><au>Bruckner, Anna L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diagnosing Epidermolysis Bullosa Type and Subtype in Infancy Using Immunofluorescence Microscopy: The Stanford Experience</atitle><jtitle>Pediatric dermatology</jtitle><addtitle>Pediatr Dermatol</addtitle><date>2013-03</date><risdate>2013</risdate><volume>30</volume><issue>2</issue><spage>226</spage><epage>233</epage><pages>226-233</pages><issn>0736-8046</issn><eissn>1525-1470</eissn><abstract>The natural history of inherited epidermolysis bullosa (EB) varies significantly across subtypes. When confronted with an infant suspected to have EB, rapidly determining the type and subtype is critical in counselling families accurately about the infant's diagnosis and prognosis. Although transmission electron microscopy (TEM) has been considered the criterion standard for EB diagnosis, immunofluorescence microscopy (IFM) using monoclonal antibodies (mAbs) to EB‐specific basement membrane zone proteins has several advantages, but few studies have evaluated the diagnostic utility of IFM. We sought to evaluate the clinical utility of IFM using an expanded panel of EB‐specific mAbs. This was a retrospective review of pathology reports from infants younger < 1 year old with suspected EB primarily analyzed with IFM by the Stanford Dermatopathology service. Seventy‐seven cases were identified for analysis, of which 20 were suboptimal for IFM analysis. Fifty‐five cases were diagnosed with EB and classified as follows: EB simplex (n = 5), junctional EB (n = 31), dystrophic EB (n = 19). TEM was available in 36 of 55 cases (65%). IFM with an expanded panel of EB‐specific mAbs should be considered the first‐line diagnostic test to evaluate infants with clinically suspected EB.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>23461686</pmid><doi>10.1111/j.1525-1470.2012.01880.x</doi><tpages>8</tpages></addata></record> |
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| subjects | Epidermolysis Bullosa - pathology Humans Infant Microscopy, Electron, Transmission - methods Microscopy, Fluorescence - methods Retrospective Studies Skin - pathology |
| title | Diagnosing Epidermolysis Bullosa Type and Subtype in Infancy Using Immunofluorescence Microscopy: The Stanford Experience |
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