Mild collodion baby as a presenting sign of loricrin keratoderma: report of a case and review of the literature
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Published in | Clinical and experimental dermatology Vol. 45; no. 3; pp. 395 - 398 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
England
Oxford University Press
01.04.2020
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Author | Muñoz‐Aceituno, E. Hernandez‐Martin, A. Nogera‐Morel, L. Torrelo, A. |
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References_xml | – volume: 173 start-page: 1291 year: 2015 end-page: 4 article-title: Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis publication-title: Br J Dermatol – volume: 31 start-page: e142 year: 2017 end-page: 4 article-title: Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis publication-title: J Eur Acad Dermatol Venereol – volume: 38 start-page: 147 year: 2013 end-page: 50 article-title: Collodion baby and loricrin keratoderma: a case report and mutation analysis publication-title: Clin Exp Dermatol – volume: 172 start-page: 1158 year: 2015 end-page: 62 article-title: Two novel mutations in the LOR gene in three families with loricrin keratoderma publication-title: Br J Dermatol – volume: 73 start-page: 85 year: 2008 end-page: 8 article-title: De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma publication-title: Clin Genet – volume: 172 start-page: 262 year: 2015 end-page: 4 article-title: A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma publication-title: Br J Dermatol – volume: 15 start-page: 665 year: 2017 end-page: 7 article-title: Low‐dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis) publication-title: J Dtsch Dermatol Ges – volume: 159 start-page: 714 year: 2008 end-page: 19 article-title: A novel c.545546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma publication-title: Br J Dermatol – volume: 27 start-page: 243 year: 2002 end-page: 6 article-title: A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome publication-title: Clin Exp Dermatol – volume: 154 start-page: 167 year: 2006 end-page: 71 article-title: Towards characterization of palmoplantar keratoderma caused by gain‐of‐function mutation in loricrin: analysis of a family and review of the literature publication-title: Br J Dermatol – volume: 13 start-page: 70 year: 1996 end-page: 7 article-title: A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome publication-title: Nat Genet – volume: 145 start-page: 657 year: 2001 end-page: 60 article-title: Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby publication-title: Br J Dermatol – volume: 111 start-page: 702 year: 1998 end-page: 4 article-title: A novel insertional mutation in loricrin in Vohwinkel's keratoderma publication-title: J Invest Dermatol – volume: 61 start-page: 581 year: 1997 end-page: 9 article-title: The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope publication-title: Am J Hum Genet – volume: 109 start-page: 604 year: 1997 end-page: 10 article-title: Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis publication-title: J Invest Dermatol – volume: 19 start-page: 44 year: 1999 end-page: 7 article-title: Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome publication-title: J Dermatol Sci – volume: 151 start-page: 389 year: 2000 end-page: 400 article-title: Lessons from loricrin‐deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein publication-title: J Cell Biol – ident: e_1_2_2_7_1 doi: 10.1016/S0923-1811(98)00049-8 – ident: e_1_2_2_18_1 doi: 10.1111/jdv.13882 – ident: e_1_2_2_10_1 doi: 10.1111/j.1399-0004.2007.00914.x – ident: e_1_2_2_12_1 doi: 10.1086/515518 – ident: e_1_2_2_8_1 doi: 10.1046/j.1365-2133.2001.04412.x – ident: e_1_2_2_13_1 doi: 10.1046/j.1523-1747.1998.00343.x – ident: e_1_2_2_11_1 doi: 10.1111/ddg.13254 – ident: e_1_2_2_14_1 doi: 10.1111/j.1365-2133.2008.08657.x – ident: e_1_2_2_15_1 doi: 10.1111/bjd.13414 – ident: e_1_2_2_3_1 doi: 10.1083/jcb.151.2.389 – ident: e_1_2_2_5_1 doi: 10.1111/1523-1747.ep12337534 – ident: e_1_2_2_6_1 doi: 10.1111/j.1365-2230.2012.04426.x – ident: e_1_2_2_9_1 doi: 10.1046/j.1365-2230.2002.01031.x – ident: e_1_2_2_2_1 doi: 10.1038/ng0596-70 – ident: e_1_2_2_16_1 doi: 10.1111/bjd.13361 – ident: e_1_2_2_17_1 doi: 10.1111/bjd.13895 – ident: e_1_2_2_4_1 doi: 10.1111/j.1365-2133.2005.06995.x |
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SubjectTerms | Case reports Humans Ichthyosiform Erythroderma, Congenital - complications Ichthyosiform Erythroderma, Congenital - pathology Infant, Newborn Keratoderma, Palmoplantar - complications Keratoderma, Palmoplantar - pathology Literature reviews Male Membrane Proteins |
Title | Mild collodion baby as a presenting sign of loricrin keratoderma: report of a case and review of the literature |
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