Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa
Identifieur interne : 004A32 ( Istex/Corpus ); précédent : 004A31; suivant : 004A33Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa
Auteurs : Bishakha RajagopalanSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2001-03-15.
English descriptors
- KwdEn :
- Arachnodactyly, Autosomal, Autosomal recessive, Autosomal recessive condition, Ballarat, Ballarat health services, Blood smear, Congenital, Congenital ichthyosis, Epilepsy, Erythema, Erythroderma, Hypogonadism, Ichthyosiform, Ichthyosiform erythroderma, Ichthyosis, Keratoderma, Marfanoid habitus, Mental retardation, Nbie, Neurological, Normal vision, Palmoplantar keratoderma, Pigmentosa, Plasma phytanic acid level, Recessive, Refsum disease, Retinitis, Retinitis pigmentosa, Right hand, Skin involvement, Small stature, Syndrome, Third brother, Thoracic kyphosis.
- Teeft :
- Arachnodactyly, Autosomal, Autosomal recessive, Autosomal recessive condition, Ballarat, Ballarat health services, Blood smear, Congenital, Congenital ichthyosis, Epilepsy, Erythema, Erythroderma, Hypogonadism, Ichthyosiform, Ichthyosiform erythroderma, Ichthyosis, Keratoderma, Marfanoid habitus, Mental retardation, Nbie, Neurological, Normal vision, Palmoplantar keratoderma, Pigmentosa, Plasma phytanic acid level, Recessive, Refsum disease, Retinitis, Retinitis pigmentosa, Right hand, Skin involvement, Small stature, Syndrome, Third brother, Thoracic kyphosis.
Abstract
Non‐bullous ichthyosiform erythroderma (NBIE) is an autosomal recessive condition characterized by generalized erythema and scaling. Two brothers with NBIE and retinitis pigmentosa are reported. One of them also had a marfanoid habitus, thoracic kyphosis, and arachnodactyly, and was heterozygous for alpha 1 antitrypsin deficiency. A third brother had skin involvement, but normal vision. Retinitis pigmentosa has been described in association with NBIE as part of Rud syndrome, which is no longer considered a separate entity. Major diagnostic features of Rud syndrome, such as hypogonadism, mental retardation, and epilepsy were absent in this family. The association of NBIE with retinitis pigmentosa in this family seems distinct from any previously described, currently recognized syndrome. © 2001 Wiley‐Liss. Inc.
Url:
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1164>3.0.CO;2-#
Links to Exploration step
ISTEX:94D16402375EA1DF7A6A7252AE684A14584B80EBLe document en format XML
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Two brothers with NBIE and retinitis pigmentosa are reported. One of them also had a marfanoid habitus, thoracic kyphosis, and arachnodactyly, and was heterozygous for alpha 1 antitrypsin deficiency. A third brother had skin involvement, but normal vision. Retinitis pigmentosa has been described in association with NBIE as part of Rud syndrome, which is no longer considered a separate entity. Major diagnostic features of Rud syndrome, such as hypogonadism, mental retardation, and epilepsy were absent in this family. The association of NBIE with retinitis pigmentosa in this family seems distinct from any previously described, currently recognized syndrome. © 2001 Wiley‐Liss. Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">ichthyosis</term><term xml:id="kwd2">blindness</term><term xml:id="kwd3">arachnodactyly</term></keywords><keywords rend="articleCategory"><term>Research Article</term></keywords><keywords rend="tocHeading1"><term>Research Articles</term></keywords></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/94D16402375EA1DF7A6A7252AE684A14584B80EB/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>John Wiley & Sons, Inc.</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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Two brothers with NBIE and retinitis pigmentosa are reported. One of them also had a marfanoid habitus, thoracic kyphosis, and arachnodactyly, and was heterozygous for alpha 1 antitrypsin deficiency. A third brother had skin involvement, but normal vision. Retinitis pigmentosa has been described in association with NBIE as part of Rud syndrome, which is no longer considered a separate entity. Major diagnostic features of Rud syndrome, such as hypogonadism, mental retardation, and epilepsy were absent in this family. The association of NBIE with retinitis pigmentosa in this family seems distinct from any previously described, currently recognized syndrome. © 2001 Wiley‐Liss. Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>NBIE and Retinitis Pigmentosa</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa</title></titleInfo><name type="personal"><namePart type="given">Bishakha</namePart><namePart type="family">Rajagopalan</namePart><affiliation>Ballarat Health Services, Ballarat, Victoria, Australia</affiliation><affiliation>E-mail: mani@giant.net.au</affiliation><affiliation>Correspondence address: Ballarat Health Services, PO Box 577, Ballarat, Victoria 3353, Australia.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2001-03-15</dateIssued><dateCaptured encoding="w3cdtf">1999-09-16</dateCaptured><dateValid encoding="w3cdtf">2000-11-15</dateValid><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">5</extent><extent unit="tables">0</extent><extent unit="references">7</extent><extent unit="words">0</extent></physicalDescription><abstract lang="en">Non‐bullous ichthyosiform erythroderma (NBIE) is an autosomal recessive condition characterized by generalized erythema and scaling. Two brothers with NBIE and retinitis pigmentosa are reported. One of them also had a marfanoid habitus, thoracic kyphosis, and arachnodactyly, and was heterozygous for alpha 1 antitrypsin deficiency. A third brother had skin involvement, but normal vision. Retinitis pigmentosa has been described in association with NBIE as part of Rud syndrome, which is no longer considered a separate entity. Major diagnostic features of Rud syndrome, such as hypogonadism, mental retardation, and epilepsy were absent in this family. The association of NBIE with retinitis pigmentosa in this family seems distinct from any previously described, currently recognized syndrome. © 2001 Wiley‐Liss. Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>ichthyosis</topic><topic>blindness</topic><topic>arachnodactyly</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><subject><genre>article-category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2001</date><detail type="volume"><caption>vol.</caption><number>99</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>181</start><end>184</end><total>4</total></extent></part></relatedItem><identifier type="istex">94D16402375EA1DF7A6A7252AE684A14584B80EB</identifier><identifier type="ark">ark:/67375/WNG-DDBWGXN7-G</identifier><identifier type="DOI">10.1002/1096-8628(2001)9999:9999<::AID-AJMG1164>3.0.CO;2-#</identifier><identifier type="ArticleID">AJMG1164</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2001 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>John Wiley & Sons, Inc.</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/94D16402375EA1DF7A6A7252AE684A14584B80EB/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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