Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome
Identifieur interne : 003111 ( Istex/Corpus ); précédent : 003110; suivant : 003112Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome
Auteurs : Maria Letizia Musumeci ; Maria Rita Nasca ; Rocco De Pasquale ; Robert A. Schwartz ; Giuseppe MicaliSource :
- Pediatric Dermatology [ 0736-8046 ] ; 2006-05.
Abstract
Abstract: We describe a 16‐year‐old boy with intestinal lymphangiectasia, lymphedema of the limbs and genitalia, mild mental retardation, and facial anomalies (Hennekam syndrome) and cutaneous lesions. Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red‐violaceous pseudo‐vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.
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DOI: 10.1111/j.1525-1470.2006.00225.x
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Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red‐violaceous pseudo‐vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>lymphedema</json:string><json:string>hennekam</json:string><json:string>lymphatic</json:string><json:string>hennekam syndrome</json:string><json:string>cutaneous</json:string><json:string>lymphangiectasia</json:string><json:string>malformation</json:string><json:string>genet</json:string><json:string>intestinal</json:string><json:string>intestinal lymphangiectasia</json:string><json:string>scrotum</json:string><json:string>penis</json:string><json:string>dermis</json:string><json:string>catania</json:string><json:string>lymphology</json:string><json:string>abnormality</json:string><json:string>dermatology</json:string><json:string>genitalia</json:string><json:string>syndrome</json:string><json:string>lower limbs</json:string><json:string>nasal bridge</json:string><json:string>hypertrophic</json:string><json:string>mental retardation</json:string><json:string>witte</json:string><json:string>phimosis</json:string><json:string>congenital</json:string><json:string>lymphatic vessels</json:string><json:string>lymph vessels</json:string><json:string>papillary dermis</json:string><json:string>giuseppe micali</json:string><json:string>pediatric dermatology</json:string><json:string>cutaneous lesions</json:string><json:string>growth retardation</json:string><json:string>severe phimosis</json:string><json:string>cutaneous lymphatic malformations</json:string><json:string>genital area</json:string><json:string>anomaly</json:string><json:string>small mouth</json:string><json:string>congenital lymphedema</json:string><json:string>reticular dermis</json:string><json:string>lower extremities</json:string><json:string>clinica dermatologica</json:string><json:string>thick lips</json:string><json:string>endothelial cells</json:string><json:string>discontinuous layer</json:string><json:string>cutaneous biopsy specimens</json:string><json:string>gigantic mass</json:string><json:string>epicanthal folds</json:string><json:string>blood vessels</json:string><json:string>gingival hypertrophy</json:string><json:string>congenital chylothorax</json:string><json:string>lymphatic system</json:string><json:string>chylous ascites</json:string><json:string>kidney malformation</json:string><json:string>severe edema</json:string><json:string>recurrent skin infections</json:string><json:string>international society</json:string><json:string>facial anomalies</json:string><json:string>cellular abnormalities</json:string><json:string>lymphology executive committee</json:string><json:string>lesion</json:string></teeft></keywords><author><json:item><name>Maria Letizia Musumeci M.D., Ph.D.</name><affiliations><json:string>Dermatology Clinic, University of Catania, Italy,</json:string></affiliations></json:item><json:item><name>Maria Rita Nasca M.D., Ph.D.</name><affiliations><json:string>Dermatology Clinic, University of Catania, Italy,</json:string></affiliations></json:item><json:item><name>Rocco De Pasquale M.D.</name><affiliations><json:string>Dermatology Clinic, University of Catania, Italy,</json:string></affiliations></json:item><json:item><name>Robert A. 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The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. 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xml:id="author-0001"><persName><forename type="first">Maria Rita</forename><surname>Nasca</surname><roleName type="degree">M.D., Ph.D.</roleName></persName><affiliation>Dermatology Clinic, University of Catania, Italy,<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Rocco</forename><surname>De Pasquale</surname><roleName type="degree">M.D.</roleName></persName><affiliation>Dermatology Clinic, University of Catania, Italy,<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Robert A.</forename><surname>Schwartz</surname><roleName type="degree">M.D., M.P.H.</roleName></persName><affiliation>Dermatology Department, New Jersey Medical School, Newark, New Jersey<address><country key="US"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename 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Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red‐violaceous pseudo‐vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.</p></abstract><textClass><classCode scheme="tocHeading1">CASE REPORTS</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/692E6307E79371BC1E3154D27E2CF7CB8F48F5CD/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Inc</publisherName><publisherLoc>Malden, USA</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1525-1470</doi><issn type="print">0736-8046</issn><issn type="electronic">1525-1470</issn><idGroup><id type="product" value="PDE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="PEDIATRIC DERMATOLOGY">Pediatric Dermatology</title></titleGroup></publicationMeta><publicationMeta level="part" position="05003"><doi origin="wiley">10.1111/pde.2006.23.issue-3</doi><numberingGroup><numbering type="journalVolume" number="23">23</numbering><numbering type="journalIssue" number="3">3</numbering></numberingGroup><coverDate startDate="2006-05">May 2006</coverDate></publicationMeta><publicationMeta level="unit" type="caseStudy" position="8" status="forIssue"><doi origin="wiley">10.1111/j.1525-1470.2006.00225.x</doi><idGroup><id type="unit" value="PDE225"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="tocHeading1">CASE REPORTS</title></titleGroup><eventGroup><event type="firstOnline" date="2006-06-12"></event><event type="publishedOnlineFinalForm" date="2006-06-12"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-04"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-06"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-11-03"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="239">239</numbering><numbering type="pageLast" number="242">242</numbering></numberingGroup><correspondenceTo>Address correspondence to Giuseppe Micali, M.D., Clinica Dermatologica, Università di Catania, P.zza S. Agata La Vetere, 6, 95124 Catania, Italy, or e‐mail: <email>cldermct@nti.it</email>.</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:PDE.PDE225.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="1"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="15"></count><count type="wordTotal" number="1878"></count></countGroup><titleGroup><title type="main">Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome</title><title type="shortAuthors">Pediatric Dermatology Vol. 23 No. 3 May/June 2006</title><title type="short">Musumeci et al: Hennekam Syndrome</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>Maria Letizia</givenNames><familyName>Musumeci</familyName><degrees>M.D., Ph.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a1"><personName><givenNames>Maria Rita</givenNames><familyName>Nasca</familyName><degrees>M.D., Ph.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1"><personName><givenNames>Rocco</givenNames><familyName>De Pasquale</familyName><degrees>M.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a2"><personName><givenNames>Robert A.</givenNames><familyName>Schwartz</familyName><degrees>M.D., M.P.H.</degrees></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a1"><personName><givenNames>Giuseppe</givenNames><familyName>Micali</familyName><degrees>M.D.</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="IT"><unparsedAffiliation>Dermatology Clinic, University of Catania, Italy,</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="US"><unparsedAffiliation>Dermatology Department, New Jersey Medical School, Newark, New Jersey</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><p><b>Abstract: </b> We describe a 16‐year‐old boy with intestinal lymphangiectasia, lymphedema of the limbs and genitalia, mild mental retardation, and facial anomalies (Hennekam syndrome) and cutaneous lesions. Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red‐violaceous pseudo‐vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Musumeci et al: Hennekam Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome</title></titleInfo><name type="personal"><namePart type="given">Maria Letizia</namePart><namePart type="family">Musumeci</namePart><namePart type="termsOfAddress">M.D., Ph.D.</namePart><affiliation>Dermatology Clinic, University of Catania, Italy,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria Rita</namePart><namePart type="family">Nasca</namePart><namePart type="termsOfAddress">M.D., Ph.D.</namePart><affiliation>Dermatology Clinic, University of Catania, Italy,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rocco</namePart><namePart type="family">De Pasquale</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Dermatology Clinic, University of Catania, Italy,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robert A.</namePart><namePart type="family">Schwartz</namePart><namePart type="termsOfAddress">M.D., M.P.H.</namePart><affiliation>Dermatology Department, New Jersey Medical School, Newark, New Jersey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giuseppe</namePart><namePart type="family">Micali</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Dermatology Clinic, University of Catania, Italy,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="case-report" displayLabel="caseStudy"></genre><originInfo><publisher>Blackwell Publishing Inc</publisher><place><placeTerm type="text">Malden, USA</placeTerm></place><dateIssued encoding="w3cdtf">2006-05</dateIssued><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="tables">1</extent><extent unit="references">15</extent><extent unit="words">1878</extent></physicalDescription><abstract>Abstract: We describe a 16‐year‐old boy with intestinal lymphangiectasia, lymphedema of the limbs and genitalia, mild mental retardation, and facial anomalies (Hennekam syndrome) and cutaneous lesions. Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red‐violaceous pseudo‐vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.</abstract><relatedItem type="host"><titleInfo><title>Pediatric Dermatology</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0736-8046</identifier><identifier type="eISSN">1525-1470</identifier><identifier type="DOI">10.1111/(ISSN)1525-1470</identifier><identifier type="PublisherID">PDE</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>23</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>239</start><end>242</end><total>4</total></extent></part></relatedItem><identifier type="istex">692E6307E79371BC1E3154D27E2CF7CB8F48F5CD</identifier><identifier type="DOI">10.1111/j.1525-1470.2006.00225.x</identifier><identifier type="ArticleID">PDE225</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Publishing Inc</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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