Ichthyosis and neutral lipid storage disease
Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique di...
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| Veröffentlicht in: | American journal of medical genetics 1985-04, Vol.20 (4), p.711-726 |
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| container_end_page | 726 |
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| container_issue | 4 |
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| container_title | American journal of medical genetics |
| container_volume | 20 |
| creator | Williams, Mary L. Koch, Thomas K. O'Donnell, James J. Frost, Philip H. Epstein, Lois B. Grizzard, W. Sanderson Epstein, Charles J. Opitz, John M. Reynolds, James F. |
| description | Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils. |
| doi_str_mv | 10.1002/ajmg.1320200417 |
| format | Article |
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Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320200417</identifier><identifier>PMID: 3993689</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; autosomal recessive inheritance ; Biological and medical sciences ; carrier detection ; carrier manifestations ; Cataract - genetics ; cataracts ; Child ; Complex syndromes ; Consanguinity ; deafness ; Deafness - genetics ; Female ; Genes, Recessive ; Genetic Carrier Screening ; Humans ; ichthyosis ; Ichthyosis - genetics ; ichthyosis, deafness ; leukocyte vacuoles ; Leukocytes - ultrastructure ; Lipid Metabolism, Inborn Errors - genetics ; lipid storage disease ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Muscular Diseases - genetics ; Pedigree ; Syndrome ; Vacuoles - ultrastructure</subject><ispartof>American journal of medical genetics, 1985-04, Vol.20 (4), p.711-726</ispartof><rights>Copyright © 1985 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1986 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5087-c295f1942b3ff393d3fcb941a2264d25bc91d8d1678fa64e732add9e428fa61d3</citedby><cites>FETCH-LOGICAL-c5087-c295f1942b3ff393d3fcb941a2264d25bc91d8d1678fa64e732add9e428fa61d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8440968$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3993689$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Williams, Mary L.</creatorcontrib><creatorcontrib>Koch, Thomas K.</creatorcontrib><creatorcontrib>O'Donnell, James J.</creatorcontrib><creatorcontrib>Frost, Philip H.</creatorcontrib><creatorcontrib>Epstein, Lois B.</creatorcontrib><creatorcontrib>Grizzard, W. Sanderson</creatorcontrib><creatorcontrib>Epstein, Charles J.</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><title>Ichthyosis and neutral lipid storage disease</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.</description><subject>Adolescent</subject><subject>autosomal recessive inheritance</subject><subject>Biological and medical sciences</subject><subject>carrier detection</subject><subject>carrier manifestations</subject><subject>Cataract - genetics</subject><subject>cataracts</subject><subject>Child</subject><subject>Complex syndromes</subject><subject>Consanguinity</subject><subject>deafness</subject><subject>Deafness - genetics</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Genetic Carrier Screening</subject><subject>Humans</subject><subject>ichthyosis</subject><subject>Ichthyosis - genetics</subject><subject>ichthyosis, deafness</subject><subject>leukocyte vacuoles</subject><subject>Leukocytes - ultrastructure</subject><subject>Lipid Metabolism, Inborn Errors - genetics</subject><subject>lipid storage disease</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Muscular Diseases - genetics</subject><subject>Pedigree</subject><subject>Syndrome</subject><subject>Vacuoles - ultrastructure</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1LAzEQhoMotX6cPQl7EE-uzSTpJsFTFdsqfoAogpeQJlmNbrs12aL99-6ypeLJ0zAzzzszvIPQAeBTwJj09Pv09RQowQRjBnwDdQHLLBUZEZuoi4GJlBMpt9FOjO8YQ10gHdShUtJMyC46uTJv1duyjD4memaTmVtUQRdJ4efeJrEqg351ifXR6ej20Faui-j2V3EXPQ0vHy_G6c396OpicJOaPhY8NUT2c5CMTGieU0ktzc1EMtCEZMyS_sRIsMJCxkWuM-Y4Jdpa6RhpcrB0Fx23c-eh_Fy4WKmpj8YVhZ65chEVzwATwsW_IDAAUd9Ug70WNKGMMbhczYOf6rBUgFVjpGqMVL9G1orD1ejFZOrsml85V_ePVn0djS7yoGfGxzUmGKv_0Cw-a7EvX7jlf1vV4Pp29OeItFX7WLnvtVqHD5Vxyvvq-W6kxkKePwzli8L0B__Lmj8</recordid><startdate>198504</startdate><enddate>198504</enddate><creator>Williams, Mary L.</creator><creator>Koch, Thomas K.</creator><creator>O'Donnell, James J.</creator><creator>Frost, Philip H.</creator><creator>Epstein, Lois B.</creator><creator>Grizzard, W. Sanderson</creator><creator>Epstein, Charles J.</creator><creator>Opitz, John M.</creator><creator>Reynolds, James F.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>198504</creationdate><title>Ichthyosis and neutral lipid storage disease</title><author>Williams, Mary L. ; Koch, Thomas K. ; O'Donnell, James J. ; Frost, Philip H. ; Epstein, Lois B. ; Grizzard, W. Sanderson ; Epstein, Charles J. ; Opitz, John M. ; Reynolds, James F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5087-c295f1942b3ff393d3fcb941a2264d25bc91d8d1678fa64e732add9e428fa61d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1985</creationdate><topic>Adolescent</topic><topic>autosomal recessive inheritance</topic><topic>Biological and medical sciences</topic><topic>carrier detection</topic><topic>carrier manifestations</topic><topic>Cataract - genetics</topic><topic>cataracts</topic><topic>Child</topic><topic>Complex syndromes</topic><topic>Consanguinity</topic><topic>deafness</topic><topic>Deafness - genetics</topic><topic>Female</topic><topic>Genes, Recessive</topic><topic>Genetic Carrier Screening</topic><topic>Humans</topic><topic>ichthyosis</topic><topic>Ichthyosis - genetics</topic><topic>ichthyosis, deafness</topic><topic>leukocyte vacuoles</topic><topic>Leukocytes - ultrastructure</topic><topic>Lipid Metabolism, Inborn Errors - genetics</topic><topic>lipid storage disease</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Muscular Diseases - genetics</topic><topic>Pedigree</topic><topic>Syndrome</topic><topic>Vacuoles - ultrastructure</topic><toplevel>online_resources</toplevel><creatorcontrib>Williams, Mary L.</creatorcontrib><creatorcontrib>Koch, Thomas K.</creatorcontrib><creatorcontrib>O'Donnell, James J.</creatorcontrib><creatorcontrib>Frost, Philip H.</creatorcontrib><creatorcontrib>Epstein, Lois B.</creatorcontrib><creatorcontrib>Grizzard, W. Sanderson</creatorcontrib><creatorcontrib>Epstein, Charles J.</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Williams, Mary L.</au><au>Koch, Thomas K.</au><au>O'Donnell, James J.</au><au>Frost, Philip H.</au><au>Epstein, Lois B.</au><au>Grizzard, W. Sanderson</au><au>Epstein, Charles J.</au><au>Opitz, John M.</au><au>Reynolds, James F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ichthyosis and neutral lipid storage disease</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1985-04</date><risdate>1985</risdate><volume>20</volume><issue>4</issue><spage>711</spage><epage>726</epage><pages>711-726</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>3993689</pmid><doi>10.1002/ajmg.1320200417</doi><tpages>16</tpages></addata></record> |
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| ispartof | American journal of medical genetics, 1985-04, Vol.20 (4), p.711-726 |
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| subjects | Adolescent autosomal recessive inheritance Biological and medical sciences carrier detection carrier manifestations Cataract - genetics cataracts Child Complex syndromes Consanguinity deafness Deafness - genetics Female Genes, Recessive Genetic Carrier Screening Humans ichthyosis Ichthyosis - genetics ichthyosis, deafness leukocyte vacuoles Leukocytes - ultrastructure Lipid Metabolism, Inborn Errors - genetics lipid storage disease Male Medical genetics Medical sciences Middle Aged Muscular Diseases - genetics Pedigree Syndrome Vacuoles - ultrastructure |
| title | Ichthyosis and neutral lipid storage disease |
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