{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T09:07:01Z","timestamp":1789981621309,"version":"4.0.1"},"reference-count":174,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T00:00:00Z","timestamp":1599091200000},"content-version":"vor","delay-in-days":2682,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Actas Dermo-Sifiliogr\u00e1ficas (English Edition)"],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1016\/j.adengl.2011.11.021","type":"journal-article","created":{"date-parts":[[2013,4,3]],"date-time":"2013-04-03T04:17:48Z","timestamp":1364962668000},"page":"270-284","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Autosomal Recessive Congenital Ichthyosis"],"prefix":"10.1016","volume":"104","author":[{"given":"L.","family":"Rodr\u00edguez-Pazos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ginarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Vega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Toribio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.adengl.2011.11.021_bib0005","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sor\u00e8ze 2009","volume":"63","author":"Oji","year":"2010","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0010","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1086\/429844","article-title":"Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis","volume":"76","author":"Kelsell","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0015","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1172\/JCI24834","article-title":"Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer","volume":"115","author":"Akiyama","year":"2005","journal-title":"J Clin Invest"},{"key":"10.1016\/j.adengl.2011.11.021_bib0020","doi-asserted-by":"crossref","first-page":"2369","DOI":"10.1093\/hmg\/ddg235","article-title":"Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2","volume":"12","author":"Lef\u00e9vre","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0025","doi-asserted-by":"crossref","first-page":"2306","DOI":"10.1038\/jid.2009.23","article-title":"ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma","volume":"129","author":"Sakai","year":"2009","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0030","doi-asserted-by":"crossref","first-page":"2669","DOI":"10.1038\/sj.jid.5700885","article-title":"Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia","volume":"127","author":"Natsuga","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0035","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1046\/j.1523-1747.2003.12032.x","article-title":"Self-healing collodion baby:a dynamic phenotype explained by a particular transglutaminase-1 mutation","volume":"120","author":"Raghunath","year":"2003","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0040","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1111\/j.1365-2133.2009.09277.x","article-title":"Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation","volume":"161","author":"Mazereeuw-Hautier","year":"2009","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0045","first-page":"433","article-title":"Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks","volume":"15","author":"Jacyk","year":"2005","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0050","doi-asserted-by":"crossref","first-page":"49S","DOI":"10.1111\/1523-1747.ep12388591","article-title":"The genetics of ichthyosis: a primer for epidemiologists","volume":"102","author":"Bale","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0055","series-title":"Gene Reviews","article-title":"Autosomal Recessive Congenital ichthyosis","author":"Bale","year":"2009"},{"key":"10.1016\/j.adengl.2011.11.021_bib0060","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1038\/sj.ejhg.5200224","article-title":"Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway","volume":"6","author":"Pigg","year":"1998","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0065","article-title":"Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain","author":"Hern\u00e1ndez-Mart\u00edn","year":"2011","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0070","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1111\/j.1365-2133.2011.10454.x","article-title":"Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects","volume":"165","author":"Rodr\u00edguez-Pazos","year":"2011","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0075","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1086\/301818","article-title":"Genotype\/phenotype correlation in autosomal recessive lamellar ichthyosis","volume":"62","author":"Hennies","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0080","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1038\/sj.ejhg.5200353","article-title":"Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis","volume":"7","author":"Laiho","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0085","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1001\/archderm.1985.01660040061013","article-title":"Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma","volume":"121","author":"Williams","year":"1985","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0090","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1001\/archderm.1985.01660040073014","article-title":"Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma","volume":"121","author":"Hazell","year":"1985","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0095","first-page":"381","article-title":"Estudio cl\u00ednico e histopatol\u00f3gico de 17 casos de ictiosis laminar","volume":"87","author":"Pe\u00f1a-Pe\u00f1abad","year":"1996","journal-title":"Actas Dermosifiliogr"},{"key":"10.1016\/j.adengl.2011.11.021_bib0100","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1111\/j.1365-2133.1994.tb13110.x","article-title":"Clinical, light and electron microscopic features of recessive congenital ichthyosis type i","volume":"130","author":"Niemi","year":"1994","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0105","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/BF01106104","article-title":"Recessive ichthyosis congenita type ii","volume":"283","author":"Niemi","year":"1991","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.adengl.2011.11.021_bib0110","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF00372578","article-title":"Clinical, light and electron microscopic features of recessive ichthyosis congenita type III","volume":"284","author":"Niemi","year":"1992","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.adengl.2011.11.021_bib0115","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1001\/archderm.144.3.351","article-title":"Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene","volume":"144","author":"Harting","year":"2008","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0120","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1111\/j.1365-2133.2010.09745.x","article-title":"Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations","volume":"163","author":"Akiyama","year":"2010","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0125","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1097\/00000372-198312000-00006","article-title":"New observations on the fine structure of lamellar ichthyosis and the effect of treatment with etretinate","volume":"5","author":"Kanerva","year":"1983","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0130","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1111\/j.1365-4632.2009.04223.x","article-title":"Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene","volume":"48","author":"Rodr\u00edguez-Pazos","year":"2009","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0135","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0923-1811(00)00087-6","article-title":"Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis","volume":"24","author":"Yotsumoto","year":"2000","journal-title":"J Dermatol Sci"},{"key":"10.1016\/j.adengl.2011.11.021_bib0140","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1073\/pnas.95.3.1044","article-title":"Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)","volume":"95","author":"Matsuki","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.adengl.2011.11.021_bib0145","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1007\/BF00440599","article-title":"Ichthyosis congenita type iii. Clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group","volume":"280","author":"Arnold","year":"1988","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.adengl.2011.11.021_bib0150","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1097\/00000372-199512000-00015","article-title":"A particular subtype of ichthyosis congenita type iii. Clinical, light, and electron microscopic features","volume":"17","author":"de Wolf","year":"1995","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0155","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1097\/00000372-198911020-00007","article-title":"Ichthyosis with laminated membrane structures","volume":"11","author":"Niemi","year":"1989","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0160","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1136\/jmg.2007.050542","article-title":"Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis","volume":"44","author":"Dahlqvist","year":"2007","journal-title":"J Med Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0165","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1097\/00000372-199306000-00005","article-title":"Recessive ichthyosis congenita type iv","volume":"15","author":"Niemi","year":"1993","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0170","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1046\/j.1365-2133.1997.d01-1204.x","article-title":"Ichthyosis congenita type iv: a new case resembling diffuse cutaneous mastocytosis","volume":"136","author":"Brusasco","year":"1997","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0175","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1007\/s10038-006-0035-z","article-title":"A founder mutation for ichthyosis prematurity syndrome restricted to 76kb by haplotype association","volume":"51","author":"Melin","year":"2006","journal-title":"J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0180","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1038\/jid.2009.57","article-title":"Autosomal recessive congenital ichthyosis","volume":"129","author":"Fischer","year":"2009","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0185","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1038\/jid.2008.409","article-title":"Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B","volume":"129","author":"Eckl","year":"2009","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0190","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1007\/s00726-008-0124-8","article-title":"Transglutaminases and their substrates in biology and human diseases: 50 years of growing","volume":"36","author":"Facchiano","year":"2009","journal-title":"Amino Acids"},{"key":"10.1016\/j.adengl.2011.11.021_bib0195","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1002\/bies.10144","article-title":"Epithelial barrier function: assembly and structural features of the cornified cell envelope","volume":"24","author":"Kalinin","year":"2002","journal-title":"Bioessays"},{"key":"10.1016\/j.adengl.2011.11.021_bib0200","doi-asserted-by":"crossref","first-page":"12035","DOI":"10.1074\/jbc.272.18.12035","article-title":"S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes","volume":"272","author":"Robinson","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1016\/j.adengl.2011.11.021_bib0205","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/emm.1999.2","article-title":"Bricks and mortar of the epidermal barrier","volume":"31","author":"Nemes","year":"1999","journal-title":"Exp Mol Med"},{"key":"10.1016\/j.adengl.2011.11.021_bib0210","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/nrm1619","article-title":"The cornified envelope: a model of cell death in the skin","volume":"6","author":"Candi","year":"2005","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0215","doi-asserted-by":"crossref","first-page":"21018","DOI":"10.1074\/jbc.272.34.21018","article-title":"Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase","volume":"272","author":"Huber","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1016\/j.adengl.2011.11.021_bib0220","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1007\/s004390050697","article-title":"Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis","volume":"102","author":"Hennies","year":"1998","journal-title":"Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0225","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1046\/j.1523-1747.1998.00132.x","article-title":"In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study","volume":"110","author":"Hohl","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0230","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1046\/j.1365-2133.2003.05041.x","article-title":"A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype","volume":"148","author":"Akiyama","year":"2003","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0235","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s00403-005-0591-7","article-title":"Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity","volume":"297","author":"Rice","year":"2005","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.adengl.2011.11.021_bib0240","first-page":"1146","article-title":"Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q","volume":"55","author":"Russell","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0245","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/ng0395-279","article-title":"Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis","volume":"9","author":"Russell","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0250","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.7824952","article-title":"Mutations of keratinocyte transglutaminase in lamellar ichthyosis","volume":"267","author":"Huber","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.adengl.2011.11.021_bib0255","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1136\/jmg.2008.060905","article-title":"Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA","volume":"46","author":"Farasat","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0260","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/humu.20952","article-title":"Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1","volume":"30","author":"Herman","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.adengl.2011.11.021_bib0265","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1007\/s004390000284","article-title":"Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies","volume":"106","author":"Shevchenko","year":"2000","journal-title":"Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0270","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1093\/hmg\/4.8.1391","article-title":"Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity","volume":"4","author":"Parmentier","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0275","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1155\/2004\/965968","article-title":"Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families","volume":"20","author":"Shawky","year":"2004","journal-title":"Dis Markers"},{"key":"10.1016\/j.adengl.2011.11.021_bib0280","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1046\/j.1365-2133.2001.04126.x","article-title":"Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene","volume":"144","author":"Cserhalmi-Friedman","year":"2001","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0285","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1086\/515498","article-title":"Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population","volume":"61","author":"Laiho","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0290","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/j.1600-0625.1999.tb00360.x","article-title":"Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis","volume":"8","author":"Tok","year":"1999","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0295","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1046\/j.1523-1747.2000.00027.x","article-title":"Role of Sp1 response element in transcription of the human transglutaminase 1 gene","volume":"115","author":"Jessen","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0300","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1046\/j.1523-1747.2001.01314.x","article-title":"Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis","volume":"116","author":"Esposito","year":"2001","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0305","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1046\/j.1523-1747.2003.19522.x","article-title":"Novel transglutaminase 1 gene mutations (R348X\/Y365D) in a Japanese family with lamellar ichthyosis","volume":"120","author":"Kon","year":"2003","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0310","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s00403-007-0815-0","article-title":"Rapid detection of homozygous mutations in congenital recessive ichthyosis","volume":"300","author":"Lugassy","year":"2008","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.adengl.2011.11.021_bib0315","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1111\/j.1365-4632.2011.05171.x","article-title":"Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis","volume":"51","author":"Fachal","year":"2012","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0320","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1046\/j.1365-2133.2001.04037.x","article-title":"Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma","volume":"144","author":"Akiyama","year":"2001","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0325","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1034\/j.1600-0625.2003.120313.x","article-title":"Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma","volume":"12","author":"Becker","year":"2003","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0330","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1080\/00015550310002666","article-title":"Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients","volume":"83","author":"G\u00e5nemo","year":"2003","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0335","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1006\/geno.2001.6519","article-title":"A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression","volume":"73","author":"Krieg","year":"2001","journal-title":"Genomics"},{"key":"10.1016\/j.adengl.2011.11.021_bib0340","doi-asserted-by":"crossref","first-page":"3494","DOI":"10.1111\/j.1742-4658.2007.05909.x","article-title":"The hepoxilin connection in the epidermis","volume":"274","author":"Brash","year":"2007","journal-title":"FEBS J"},{"key":"10.1016\/j.adengl.2011.11.021_bib0345","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.prostaglandins.2006.05.006","article-title":"Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation","volume":"82","author":"F\u00fcrstenberger","year":"2007","journal-title":"Prostaglandins Other Lipid Mediat"},{"key":"10.1016\/j.adengl.2011.11.021_bib0350","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1007\/s11745-000-0576-0","article-title":"Diversity of mouse lipoxygenases: identification of a subfamily of epidermal isozymes exhibiting a differentiation-dependent mRNA expression pattern","volume":"35","author":"Heidt","year":"2000","journal-title":"Lipids"},{"key":"10.1016\/j.adengl.2011.11.021_bib0355","doi-asserted-by":"crossref","first-page":"9162","DOI":"10.1073\/pnas.1633612100","article-title":"The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase","volume":"100","author":"Yu","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.adengl.2011.11.021_bib0360","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/978-1-4615-4861-4_12","article-title":"The hepoxilins. A review","volume":"447","author":"Pace-Asciak","year":"1999","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0365","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1086\/321284","article-title":"Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity","volume":"69","author":"Krebsov\u00e1","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0370","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1093\/hmg\/11.1.107","article-title":"Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1","volume":"11","author":"Jobard","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0375","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/humu.20236","article-title":"Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis","volume":"26","author":"Eckl","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.adengl.2011.11.021_bib0380","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1111\/j.1365-2133.2006.07188.x","article-title":"A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma","volume":"155","author":"Ashoor","year":"2006","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0385","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1038\/sj.jid.5700640","article-title":"Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13","volume":"127","author":"Lesueur","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0390","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/jid.2009.346","article-title":"Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients","volume":"130","author":"Vahlquist","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0395","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1111\/j.1468-3083.2009.03381.x","article-title":"Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family","volume":"24","author":"Kurban","year":"2010","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0400","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.bbalip.2004.10.007","article-title":"Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3","volume":"1686","author":"Yu","year":"2005","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.adengl.2011.11.021_bib0405","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1038\/jid.2008.410","article-title":"Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants","volume":"129","author":"de Juanes","year":"2009","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0410","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1083\/jcb.200612116","article-title":"12R-lipoxygenase deficiency disrupts epidermal barrier function","volume":"177","author":"Epp","year":"2007","journal-title":"J Cell Biol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0415","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1038\/sj.jid.5700825","article-title":"A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier","volume":"127","author":"Moran","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0420","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1093\/hmg\/ddh263","article-title":"Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis","volume":"13","author":"Lef\u00e8vre","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0425","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1159\/000265757","article-title":"NIPAL4\/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis","volume":"220","author":"Wajid","year":"2010","journal-title":"Dermatology"},{"key":"10.1016\/j.adengl.2011.11.021_bib0430","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1086\/302813","article-title":"Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2","volume":"66","author":"Virolainen","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0435","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1093\/hmg\/ddi491","article-title":"Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3","volume":"15","author":"Lef\u00e8vre","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0440","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/S0090-6980(02)00039-4","article-title":"Prostaglandin and leukotriene omega-hydroxylases","volume":"68-69","author":"Kikuta","year":"2002","journal-title":"Prostaglandins Other Lipid Mediat"},{"key":"10.1016\/j.adengl.2011.11.021_bib0445","doi-asserted-by":"crossref","first-page":"24763","DOI":"10.1016\/S0021-9258(18)54295-2","article-title":"Peroxisomal degradation of leukotrienes by beta-oxidation from the omega-end","volume":"266","author":"Jedlitschky","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1016\/j.adengl.2011.11.021_bib0450","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1023\/A:1012823120935","article-title":"Complete characterization of the human ABC gene family","volume":"33","author":"Dean","year":"2001","journal-title":"J Bioenerg Biomembr"},{"key":"10.1016\/j.adengl.2011.11.021_bib0455","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1111\/j.1600-0625.2007.00614.x","article-title":"Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes","volume":"16","author":"Sakai","year":"2007","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0460","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1001\/archderm.142.7.914","article-title":"Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases","volume":"142","author":"Akiyama","year":"2006","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0465","doi-asserted-by":"crossref","first-page":"36624","DOI":"10.1074\/jbc.M807377200","article-title":"ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters","volume":"283","author":"Zuo","year":"2008","journal-title":"J Biol Chem"},{"key":"10.1016\/j.adengl.2011.11.021_bib0470","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.jdermsci.2006.01.003","article-title":"Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms","volume":"42","author":"Akiyama","year":"2006","journal-title":"J Dermatol Sci"},{"key":"10.1016\/j.adengl.2011.11.021_bib0475","doi-asserted-by":"crossref","first-page":"970","DOI":"10.2353\/ajpath.2009.080860","article-title":"Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis","volume":"174","author":"Thomas","year":"2009","journal-title":"Am J Pathol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0480","doi-asserted-by":"crossref","first-page":"e1000192","DOI":"10.1371\/journal.pgen.1000192","article-title":"A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis","volume":"4","author":"Smyth","year":"2008","journal-title":"PLoS Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0485","doi-asserted-by":"crossref","first-page":"106","DOI":"10.2353\/ajpath.2010.091120","article-title":"Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice","volume":"177","author":"Yanagi","year":"2010","journal-title":"Am J Pathol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0490","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1038\/sj.jid.5700455","article-title":"ABCA12 is the major harlequin ichthyosis gene","volume":"126","author":"Thomas","year":"2006","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0495","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1111\/j.1365-2133.2007.08277.x","article-title":"Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis","volume":"158","author":"Thomas","year":"2008","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0500","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1111\/j.1399-0004.2009.01198.x","article-title":"Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis","volume":"76","author":"Castiglia","year":"2009","journal-title":"Clin Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0505","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1159\/000104269","article-title":"Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis","volume":"215","author":"Akiyama","year":"2007","journal-title":"Dermatology"},{"key":"10.1016\/j.adengl.2011.11.021_bib0510","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/sj.jid.5700617","article-title":"DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences","volume":"127","author":"Akiyama","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0515","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1111\/j.1365-2133.2008.08439.x","article-title":"Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma","volume":"158","author":"Akiyama","year":"2008","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0520","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1001\/archdermatol.2011.9","article-title":"Harlequin Ichthyosis: A Review of Clinical and Molecular Findings in 45 Cases","volume":"147","author":"Rajpopat","year":"2011","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0525","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/jp.2009.100","article-title":"Perinatal management of harlequin ichthyosis: a case report and literature review","volume":"30","author":"Harvey","year":"2010","journal-title":"J Perinatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0530","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1046\/j.1365-2133.1996.d01-1019.x","article-title":"A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma","volume":"135","author":"Haftek","year":"1996","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0535","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.jdermsci.2010.11.010","article-title":"New insight into genotype\/phenotype correlations in ABCA12 mutations in harlequin ichthyosis","volume":"61","author":"Umemoto","year":"2011","journal-title":"J Dermatol Sci"},{"key":"10.1016\/j.adengl.2011.11.021_bib0540","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/1523-1747.ep12873301","article-title":"Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules","volume":"94","author":"Dale","year":"1990","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0545","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1111\/1523-1747.ep12614791","article-title":"Abnormal lamellar granules in harlequin ichthyosis","volume":"99","author":"Milner","year":"1992","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0550","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1046\/j.1468-3083.2002.00477.x","article-title":"Collodion baby: a follow-up study of 17 cases","volume":"16","author":"Van Gysel","year":"2002","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0555","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1365-2133.1993.tb03318.x","article-title":"Collodion baby dehydration: the danger of high transepidermal water loss","volume":"129","author":"Buyse","year":"1993","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0560","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1399-0004.1986.tb00580.x","article-title":"Autosomal dominant lamellar ichthyosis","volume":"30","author":"Toribio","year":"1986","journal-title":"Clin Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0565","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/j.1399-0004.1984.tb01089.x","article-title":"Autosomal dominant lamellar ichthyosis: a new skin disorder","volume":"26","author":"Traupe","year":"1984","journal-title":"Clin Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0570","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S0151-9638(07)91817-7","article-title":"B\u00e9b\u00e9 collodion r\u00e9v\u00e9lant une trichothiodystrophie confondue avec un syndrome de Netherton: r\u00e9\u00e9valuation d\u2019une erreur de diagnostic","volume":"134","author":"Larr\u00e8gue","year":"2007","journal-title":"Ann Dermatol Venereol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0575","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.1525-1470.2006.00228.x","article-title":"A child with hypohidrotic ectodermal dysplasia with features of a collodion membrane","volume":"23","author":"Thomas","year":"2006","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0580","series-title":"The ichthyosis. A guide to clinical diagnosis, genetic counselling, and therapy","author":"Traupe","year":"1989"},{"key":"10.1016\/j.adengl.2011.11.021_bib0585","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1001\/archderm.1972.01620060036006","article-title":"Lamellar ichthyosis of the newborn A distinct clinical entity: its comparison to the other ichthyosiform erythrodermas","volume":"105","author":"Reed","year":"1972","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0590","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1111\/j.1525-1470.1992.tb01221.x","article-title":"Self-healing collodion baby: evidence for autosomal recessive inheritance","volume":"9","author":"Frenk","year":"1992","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0595","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1365-2133.2009.09537.x","article-title":"Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis","volume":"162","author":"Hackett","year":"2010","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0600","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1136\/adc.27.135.438","article-title":"Collodion skin in the neonate due to lamellar ichthyosis","volume":"27","author":"Finlay","year":"1952","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.adengl.2011.11.021_bib0605","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1111\/j.1365-2133.2003.05803.x","article-title":"A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene","volume":"150","author":"Muramatsu","year":"2004","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0610","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1159\/000484767","article-title":"Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis:significance for mutant transcript level, TGK immunodetection and activity","volume":"5","author":"Petit","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0615","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1046\/j.0022-202x.2001.01429.x","article-title":"Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis","volume":"117","author":"Yang","year":"2001","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0620","doi-asserted-by":"crossref","first-page":"3083","DOI":"10.1093\/hmg\/ddl249","article-title":"Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype","volume":"15","author":"Oji","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0625","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1684\/ejd.2010.1008","article-title":"Bathing suit ichthyosis","volume":"20","author":"Trindade","year":"2010","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0630","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1038\/sj.jid.5700550","article-title":"The South African bathing suit ichthyosis is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1","volume":"127","author":"Arita","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0635","doi-asserted-by":"crossref","first-page":"2068","DOI":"10.1038\/jid.2009.18","article-title":"Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene\/environment interactions","volume":"129","author":"Aufenvenne","year":"2009","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0640","doi-asserted-by":"crossref","first-page":"4","DOI":"10.2340\/00015555-0415","article-title":"Congenital ichthyosis: an overview of current and emerging therapies","volume":"88","author":"Vahlquist","year":"2008","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0645","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.jaad.2007.03.039","article-title":"Treatment of ichthyosis-There is always something you can do! In Memoriam: Wolfgang K\u00fcster","volume":"57","author":"Traupe","year":"2007","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0650","first-page":"347","article-title":"An evaluation of the effect of an alpha hydroxy acid-blend skin cream in the cosmetic improvement of symptoms of moderate to severe xerosis, epidermolytic hyperkeratosis, and ichthyosis","volume":"61","author":"Kempers","year":"1998","journal-title":"Cutis"},{"key":"10.1016\/j.adengl.2011.11.021_bib0655","doi-asserted-by":"crossref","first-page":"1880","DOI":"10.1016\/S0140-6736(99)04245-2","article-title":"Topical N-acetylcysteine for lamellar ichthyosis","volume":"354","author":"Redondo","year":"1999","journal-title":"Lancet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0660","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1016\/S0181-5512(05)81074-5","article-title":"Utilisation de la N-ac\u00e9tylcyst\u00e9ine en application topique cutan\u00e9e dans le traitement d\u2019un ectropion bilat\u00e9ral chez un enfant atteint d\u2019ichthyose lamellaire","volume":"28","author":"Gicquel","year":"2005","journal-title":"J Fr Ophtalmol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0665","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1111\/j.1525-1470.2011.01375.x","article-title":"Successful treatment with topical N-acetylcysteine in urea in five children with congenital lamellar ichthyosis","volume":"28","author":"Bassotti","year":"2011","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0670","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1159\/000017902","article-title":"Efficacy of urea therapy in children with ichthyosis. A multicenter randomized, placebo-controlled, double-blind, semilateral study","volume":"196","author":"K\u00fcster","year":"1998","journal-title":"Dermatology"},{"key":"10.1016\/j.adengl.2011.11.021_bib0675","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1046\/j.1365-2133.1999.03101.x","article-title":"Effect of topical tazarotene in the treatment of congenital ichthyoses","volume":"141","author":"Hofmann","year":"1999","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0680","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1046\/j.1365-2230.2003.01318.x","article-title":"Type I lamellar ichthyosis improved by tazarotene 0.1% gel","volume":"28","author":"Marulli","year":"2003","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0685","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1001\/archderm.1995.01690170058008","article-title":"Efficacy, tolerability, and safety of calcipotriol ointment in disorders of keratinization. Results of a randomized, double-blind, vehicle-controlled, right\/left comparative study","volume":"131","author":"Kragballe","year":"1995","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0690","doi-asserted-by":"crossref","first-page":"351","DOI":"10.2165\/11311070-000000000-00000","article-title":"Ichthyosis: clinical manifestations and practical treatment options","volume":"10","author":"Oji","year":"2009","journal-title":"Am J Clin Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0695","doi-asserted-by":"crossref","first-page":"17","DOI":"10.2165\/00128071-200405010-00004","article-title":"Disorders of keratinization: diagnosis and management","volume":"5","author":"Shwayder","year":"2004","journal-title":"Am J Clin Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0700","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1111\/j.1365-2133.1997.tb01574.x","article-title":"Lamellar ichthyosis is markedly improved by a novel combination of emollients","volume":"137","author":"Gnemo","year":"1997","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0705","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1046\/j.1365-2133.1999.03200.x","article-title":"Improved topical treatment of lamellar ichthyosis: a double-blind study of four different cream formulations","volume":"141","author":"G\u00e5nemo","year":"1999","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0710","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/1523-1747.ep12676615","article-title":"A keratolytic gel containing salicylic acid in propylene glycol","volume":"61","author":"Baden","year":"1973","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0715","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1136\/adc.61.7.696","article-title":"High plasma urea concentrations in collodion babies","volume":"61","author":"Beverley","year":"1986","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.adengl.2011.11.021_bib0720","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/j.1651-2227.1997.tb08902.x","article-title":"Salicylate intoxication using a skin ointment","volume":"86","author":"Chiaretti","year":"1997","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.adengl.2011.11.021_bib0725","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1525-1470.2006.00236.x","article-title":"Acute percutaneous lactic acid poisoning in a child","volume":"23","author":"Ram\u00edrez","year":"2006","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0730","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1016\/0190-9622(91)70158-X","article-title":"Acitretin in the treatment of severe disorders of keratinization. Results of an open study","volume":"24","author":"Blanchet-Bardon","year":"1991","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0735","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1111\/j.1365-2133.1994.tb02902.x","article-title":"Acitretin in the treatment of lamellar ichthyosis","volume":"130","author":"Steijlen","year":"1994","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0740","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1111\/j.1365-2133.1996.tb07936.x","article-title":"An appraisal of acitretin therapy in children with inherited disorders of keratinization","volume":"134","author":"Lacour","year":"1996","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0745","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/S0733-8635(05)70252-7","article-title":"The use of retinoids in the pediatric patient","volume":"16","author":"Ruiz-Maldonado","year":"1998","journal-title":"Dermatol Clin"},{"key":"10.1016\/j.adengl.2011.11.021_bib0750","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1111\/j.1365-2133.2005.06906.x","article-title":"Oral retinoid therapy for disorders of keratinization:single-centre retrospective 25 years\u2019 experience on 23 patients","volume":"154","author":"Katugampola","year":"2006","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0755","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1067\/S0190-9622(03)01564-0","article-title":"Oral retinoid therapy for dermatologic conditions in children and adolescents","volume":"49","author":"Brecher","year":"2003","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0760","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1111\/j.1365-2133.2010.09755.x","article-title":"Unit BCS. British Association of Dermatologists guidelines on the efficacy and use of acitretin in dermatology","volume":"162","author":"Ormerod","year":"2010","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0765","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1046\/j.1365-2133.1997.d01-1145.x","article-title":"Oral treatment of ichthyosis by the cytochrome P-450 inhibitor liarozole","volume":"136","author":"Lucker","year":"1997","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0770","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1111\/j.1365-2133.2006.07745.x","article-title":"Oral liarozole vs acitretin in the treatment of ichthyosis:a phase II\/III multicentre, double-blind, randomized, active-controlled study","volume":"156","author":"Verfaille","year":"2007","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0775","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1517\/14728214.12.4.647","article-title":"Emerging drugs for ichthyosis","volume":"12","author":"van Steensel","year":"2007","journal-title":"Expert Opin Emerg Drugs"},{"key":"10.1016\/j.adengl.2011.11.021_bib0780","doi-asserted-by":"crossref","DOI":"10.1111\/j.1365-2133.2011.10510.x","article-title":"Short and medium-term efficacy of specific hydrotherapy in inherited ichthyosis","author":"Bodemer","year":"2011","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0785","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1111\/j.1365-2230.2008.02709.x","article-title":"Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis","volume":"33","author":"Haenssle","year":"2008","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0790","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1056\/NEJM198001103020205","article-title":"Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy","volume":"302","author":"Golbus","year":"1980","journal-title":"N Engl J Med"},{"key":"10.1016\/j.adengl.2011.11.021_bib0795","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/S0140-6736(80)91404-X","article-title":"Prenatal diagnosis of epidermolysis bullosa letalis","volume":"1","author":"Rodeck","year":"1980","journal-title":"Lancet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0800","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1001\/archderm.1993.01680320071010","article-title":"Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples","volume":"129","author":"Holbrook","year":"1993","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0805","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1111\/j.1365-2133.2005.06778.x","article-title":"Prenatal exclusion of harlequin ichthyosis; potential pitfalls in the timing of the fetal skin biopsy","volume":"153","author":"Shimizu","year":"2005","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0810","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1002\/(SICI)1097-0223(199705)17:5<483::AID-PD80>3.0.CO;2-4","article-title":"Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene","volume":"17","author":"Schorderet","year":"1997","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.adengl.2011.11.021_bib0815","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1046\/j.1523-1747.1998.00104.x","article-title":"Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene","volume":"110","author":"Bichakjian","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0820","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/j.jaad.2004.06.020","article-title":"DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks\u2019 of pregnancy, in two consequent siblings","volume":"51","author":"Tsuji-Abe","year":"2004","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0825","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1111\/j.1365-4632.2010.04344.x","article-title":"Prenatal diagnosis of genodermatoses: current scope and future capabilities","volume":"49","author":"Luu","year":"2010","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0830","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/S1471-4914(03)00137-0","article-title":"Probing the fetal genome: progress in non-invasive prenatal diagnosis","volume":"9","author":"Uitto","year":"2003","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.adengl.2011.11.021_bib0835","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1046\/j.1469-0705.2002.00708.x","article-title":"Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach","volume":"20","author":"Bongain","year":"2002","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0840","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1002\/pd.1727","article-title":"Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound","volume":"27","author":"Holden","year":"2007","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.adengl.2011.11.021_bib0845","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S1471-4914(00)01867-0","article-title":"Preimplantation genetic diagnosis:applications for molecular medicine","volume":"7","author":"Wells","year":"2001","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.adengl.2011.11.021_bib0850","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/jid.2010.338","article-title":"Meeting report from Frontiers in Ichthyosis Research","volume":"131","author":"Milstone","year":"2011","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.adengl.2011.11.021_bib0855","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1038\/sj.gt.3302855","article-title":"Gene therapy progress and prospects:the skin--easily accessible, but still far away","volume":"13","author":"Hengge","year":"2006","journal-title":"Gene Ther"},{"key":"10.1016\/j.adengl.2011.11.021_bib0860","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1002\/ajmg.c.30038","article-title":"Gene therapy and the skin","volume":"131","author":"Hengge","year":"2004","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.adengl.2011.11.021_bib0865","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1089\/hum.1996.7.18-2247","article-title":"Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes","volume":"7","author":"Choate","year":"1996","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.adengl.2011.11.021_bib0870","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1038\/nm1196-1263","article-title":"Corrective gene transfer in the human skin disorder lamellar ichthyosis","volume":"2","author":"Choate","year":"1996","journal-title":"Nat Med"}],"container-title":["Actas Dermo-Sifiliogr\u00e1ficas (English Edition)"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1578219013000607?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1578219013000607?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T03:51:57Z","timestamp":1761623517000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1578219013000607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":174,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["S1578219013000607"],"URL":"https:\/\/doi.org\/10.1016\/j.adengl.2011.11.021","relation":{},"ISSN":["1578-2190"],"issn-type":[{"value":"1578-2190","type":"print"}],"subject":[],"published":{"date-parts":[[2013,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Autosomal Recessive Congenital Ichthyosis","name":"articletitle","label":"Article Title"},{"value":"Actas Dermo-Sifiliogr\u00e1ficas (English Edition)","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.adengl.2011.11.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ad.2011.11.015","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier Espa\u00f1a, S.L. and AEDV.","name":"copyright","label":"Copyright"}]}}