{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T12:16:44Z","timestamp":1792066604890,"version":"4.4.0"},"reference-count":121,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Epidermal differentiation disorders (EDDs) encompass inherited conditions characterized by abnormal epidermal differentiation, including nonsyndromic and syndromic subtypes with more extensive cutaneous involvement or palmoplantar keratoderma. Nonsyndromic EDDs (nEDDs) are defined as disorders that primarily affect large areas of skin and adnexal structures without alterations in extracutaneous tissues resulting from the underlying genetic change. To facilitate the development of targeted therapies and to provide clinicians with clearer therapeutic guidance, we have developed a new nomenclature for EDDs that includes the causative altered gene and the nEDD subgroup designation, sometimes with a clinical or histological descriptor or acronym. Historically, many nEDDs have been named on the basis of phenotypic characteristics or associations that are now considered outdated or inappropriate. For example, the term \u2018harlequin ichthyosis\u2019 evokes potentially stigmatizing images. Similarly, the word \u2018ichthyosis\u2019 is derived from the Greek ichthys, meaning fish, and the Greek hystrix, meaning porcupine, further emphasizing the need to abandon derogatory terminology. As a result, the clinical relevance of the previous classification, which included eponymous and\/or descriptive titles, has diminished. In the new, gene-based classification, old terms considered pejorative, such as ichthyosis, vulgaris, hystrix and harlequin have been eliminated and eponyms have been replaced. Among the 53 genetically distinct nEDDs are conditions formerly known as autosomal recessive congenital ichthyosis, erythrokeratodermia variabilis et progressiva, Hailey\u2013Hailey disease and Darier\u2013White disease. This review outlines the updated nomenclature and classifications of nEDDs, linked to detailed clinical descriptions and representative photographs to guide practitioners.<\/jats:p>","DOI":"10.1093\/bjd\/ljaf154","type":"journal-article","created":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T07:54:47Z","timestamp":1745913287000},"page":"619-641","source":"Crossref","is-referenced-by-count":79,"title":["Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy"],"prefix":"10.1093","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5863-9315","authenticated-orcid":false,"given":"Masashi","family":"Akiyama","sequence":"first","affiliation":[{"name":"Department of Dermatology, Nagoya University Graduate School of Medicine , Nagoya ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1010-6354","authenticated-orcid":false,"given":"Keith","family":"Choate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7260-8718","authenticated-orcid":false,"given":"\u00c1ngela","family":"Hern\u00e1ndez-Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-4911-7236","authenticated-orcid":false,"given":"Mandy","family":"Aldwin-Easton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8772-0905","authenticated-orcid":false,"given":"Christine","family":"Bodemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1091-2914","authenticated-orcid":false,"given":"Antoni","family":"Gosty\u0144ski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3412-7512","authenticated-orcid":false,"given":"Alain","family":"Hovnanian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3104-102X","authenticated-orcid":false,"given":"Akemi","family":"Ishida-Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4171-6668","authenticated-orcid":false,"given":"Kiril","family":"Malovitski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4084-4836","authenticated-orcid":false,"given":"Edel A","family":"O\u2019Toole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6187-6549","authenticated-orcid":false,"given":"Amy S","family":"Paller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4064-1334","authenticated-orcid":false,"given":"Matthias","family":"Schmuth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7676-2082","authenticated-orcid":false,"given":"Janice","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eli","family":"Sprecher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1633-6807","authenticated-orcid":false,"given":"Joyce M C","family":"Teng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6274-0341","authenticated-orcid":false,"given":"C\u00e9line","family":"Granier Tournier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6259-9790","authenticated-orcid":false,"given":"Juliette","family":"Mazereeuw-Hautier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1164-2802","authenticated-orcid":false,"given":"Gianluca","family":"Tadini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8580-8118","authenticated-orcid":false,"given":"Judith","family":"Fischer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Center, Faculty of Medicine and Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg , Freiburg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,5,1]]},"reference":[{"key":"2025091919455918500_ljaf154-B1","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1038\/s41572-022-00412-3","article-title":"Ichthyosis","volume":"9","author":"Guti\u00e9rrez-Cerrajero","year":"2023","journal-title":"Nat Rev Dis Primers"},{"key":"2025091919455918500_ljaf154-B2","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 Soreze 2009","volume":"63","author":"Oji","year":"2010","journal-title":"J Am Acad Dermatol"},{"key":"2025091919455918500_ljaf154-B3","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1136\/jmedgenet-2016-104107","article-title":"Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix","volume":"54","author":"Shah","year":"2017","journal-title":"J Med Genet"},{"key":"2025091919455918500_ljaf154-B4","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/3840","article-title":"Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis","volume":"20","author":"Richard","year":"1998","journal-title":"Nat Genet"},{"key":"2025091919455918500_ljaf154-B5","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1093\/hmg\/11.11.1311","article-title":"A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein","volume":"11","author":"Gottfried","year":"2002","journal-title":"Hum Mol Genet"},{"key":"2025091919455918500_ljaf154-B6","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1002\/ajmg.a.32744","article-title":"The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron","volume":"149A","author":"van Steensel","year":"2009","journal-title":"Am J Med Genet A"},{"key":"2025091919455918500_ljaf154-B7","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1016\/S0002-9297(07)62957-7","article-title":"Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis","volume":"67","author":"Macari","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B8","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1111\/1346-8138.13220","article-title":"Erythrokeratodermia variabilis et progressiva","volume":"43","author":"Ishida-Yamamoto","year":"2016","journal-title":"J Dermatol"},{"key":"2025091919455918500_ljaf154-B9","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1038\/jid.2014.485","article-title":"Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia","volume":"135","author":"Boyden","year":"2015","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B10","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1016\/j.jid.2018.10.044","article-title":"Gain-of-function mutations in TRPM4 activation gate cause progressive symmetric erythrokeratodermia","volume":"139","author":"Wang","year":"2019","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B11","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/j.jid.2018.08.026","article-title":"Mutations in PERP cause dominant and recessive keratoderma","volume":"139","author":"Duchatelet","year":"2019","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B12","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1016\/j.ajhg.2017.05.003","article-title":"Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma","volume":"100","author":"Boyden","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B13","doi-asserted-by":"crossref","first-page":"13962","DOI":"10.3390\/ijms241813962","article-title":"Partial loss of function ABCA12 mutations generate reduced deposition of glucosyl-ceramide, leading to patchy ichthyosis and erythrodermia resembling erythrokeratodermia variabilis et progressiva (EKVP)","volume":"24","author":"Terrinoni","year":"2023","journal-title":"Int J Mol Sci"},{"key":"2025091919455918500_ljaf154-B14","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.ajhg.2010.07.005","article-title":"Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease","volume":"87","author":"Oji","year":"2010","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B15","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1016\/j.jid.2018.04.032","article-title":"Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A","volume":"138","author":"Mohamad","year":"2018","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B16","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/j.ajhg.2011.09.001","article-title":"Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion","volume":"89","author":"Blaydon","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B17","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1038\/71701","article-title":"Mutations in ATP2C1, encoding a calcium pump, cause Hailey\u2013Hailey disease","volume":"24","author":"Hu","year":"2000","journal-title":"Nat Genet"},{"key":"2025091919455918500_ljaf154-B18","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1093\/hmg\/9.7.1131","article-title":"Hailey\u2013Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump","volume":"9","author":"Sudbrak","year":"2000","journal-title":"Hum Mol Genet"},{"key":"2025091919455918500_ljaf154-B19","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/6784","article-title":"Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease","volume":"21","author":"Sakuntabhai","year":"1999","journal-title":"Nat Genet"},{"key":"2025091919455918500_ljaf154-B20","doi-asserted-by":"crossref","first-page":"e06322","DOI":"10.7554\/eLife.06322","article-title":"Genomic variations of the mevalonate pathway in porokeratosis","volume":"4","author":"Zhang","year":"2015","journal-title":"Elife"},{"key":"2025091919455918500_ljaf154-B21","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1136\/jmedgenet-2014-102486","article-title":"Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis","volume":"51","author":"Cui","year":"2014","journal-title":"J Med Genet"},{"key":"2025091919455918500_ljaf154-B22","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/j.ajhg.2024.03.017","article-title":"Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis","volume":"111","author":"Saito","year":"2024","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B23","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1093\/bjd\/ljaf065","article-title":"A proposal for a new pathogenesis-guided classification for inherited epidermal\u00a0differentiation disorders","volume":"193","author":"Hern\u00e1ndez-Mart\u00edn","year":"2025","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B24","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.ajhg.2020.11.013","article-title":"A dyadic approach to the delineation of diagnostic entities in clinical genomics","volume":"108","author":"Biesecker","year":"2021","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B25","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1111\/febs.15497","article-title":"Acylceramide is a key player in skin barrier function: insight into the molecular mechanisms of skin barrier formation and ichthyosis pathogenesis","volume":"288","author":"Akiyama","year":"2021","journal-title":"FEBS J"},{"key":"2025091919455918500_ljaf154-B26","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":"2025091919455918500_ljaf154-B27","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":"2025091919455918500_ljaf154-B28","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":"2025091919455918500_ljaf154-B29","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":"2025091919455918500_ljaf154-B30","doi-asserted-by":"crossref","first-page":"e48","DOI":"10.1111\/pde.12740","article-title":"Two cases of autosomal recessive congenital ichthyosis due to CYP4F22 mutations: expanding the genotype of self-healing collodion baby","volume":"33","author":"Noguera-Morel","year":"2016","journal-title":"Pediatr Dermatol"},{"key":"2025091919455918500_ljaf154-B31","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.ajhg.2011.02.011","article-title":"A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis","volume":"88","author":"Israeli","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B32","doi-asserted-by":"crossref","first-page":"e1003536","DOI":"10.1371\/journal.pgen.1003536","article-title":"Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans","volume":"9","author":"Radner","year":"2013","journal-title":"PLOS Genet"},{"key":"2025091919455918500_ljaf154-B33","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1038\/ng.1056","article-title":"PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans","volume":"44","author":"Grall","year":"2012","journal-title":"Nat Genet"},{"key":"2025091919455918500_ljaf154-B34","first-page":"4484","article-title":"Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis","volume":"25","author":"Shigehara","year":"2016","journal-title":"Hum Mol Genet"},{"key":"2025091919455918500_ljaf154-B35","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1172\/JCI130675","article-title":"SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation","volume":"130","author":"Takeichi","year":"2020","journal-title":"J Clin Invest"},{"key":"2025091919455918500_ljaf154-B36","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/j.ajhg.2017.05.007","article-title":"Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans","volume":"100","author":"Heinz","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B37","doi-asserted-by":"crossref","first-page":"2202","DOI":"10.1038\/jid.2013.153","article-title":"Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length","volume":"133","author":"Eckl","year":"2013","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B38","doi-asserted-by":"crossref","first-page":"7707","DOI":"10.1073\/pnas.1503491112","article-title":"Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation","volume":"112","author":"Ohno","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025091919455918500_ljaf154-B39","doi-asserted-by":"crossref","first-page":"2344","DOI":"10.1016\/j.jid.2017.06.028","article-title":"Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia","volume":"137","author":"Takeichi","year":"2017","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B40","doi-asserted-by":"crossref","first-page":"2754","DOI":"10.1016\/j.jid.2024.03.041","article-title":"Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1","volume":"144","author":"Komlosi","year":"2024","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B41","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":"2025091919455918500_ljaf154-B42","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":"2025091919455918500_ljaf154-B43","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s40257-017-0313-x","article-title":"Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment","volume":"19","author":"Vahlquist","year":"2018","journal-title":"Am J Clin Dermatol"},{"key":"2025091919455918500_ljaf154-B44","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1093\/bjd\/ljaf054","article-title":"Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy","volume":"193","author":"Sprecher","year":"2025","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B45","doi-asserted-by":"crossref","first-page":"e486","DOI":"10.1111\/jdv.18699","article-title":"Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene","volume":"37","author":"Clabbers","year":"2023","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2025091919455918500_ljaf154-B46","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1111\/j.0022-202X.2004.22431.x","article-title":"Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis)","volume":"122","author":"Schmuth","year":"2004","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B47","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng1743","article-title":"Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris","volume":"38","author":"Smith","year":"2006","journal-title":"Nat Genet"},{"key":"2025091919455918500_ljaf154-B48","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/ng1767","article-title":"Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis","volume":"38","author":"Palmer","year":"2006","journal-title":"Nat Genet"},{"key":"2025091919455918500_ljaf154-B49","doi-asserted-by":"crossref","first-page":"102","DOI":"10.2340\/00015555-2510","article-title":"Whole-exome-sequencing reveals small deletions in CASP14 in patients with autosomal recessive inherited ichthyosis","volume":"97","author":"Kirchmeier","year":"2017","journal-title":"Acta Derm Venereol"},{"key":"2025091919455918500_ljaf154-B50","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.ajhg.2020.05.013","article-title":"Mutations in ASPRV1 cause dominantly inherited ichthyosis","volume":"107","author":"Boyden","year":"2020","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B51","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1126\/science.257.5073.1128","article-title":"Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis","volume":"257","author":"Rothnagel","year":"1992","journal-title":"Science"},{"key":"2025091919455918500_ljaf154-B52","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1093\/hmg\/ddl028","article-title":"A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis","volume":"15","author":"M\u00fcller","year":"2006","journal-title":"Hum Mol Genet"},{"key":"2025091919455918500_ljaf154-B53","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1038\/ng0894-485","article-title":"Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens","volume":"7","author":"Rothnagel","year":"1994","journal-title":"Nat Genet"},{"key":"2025091919455918500_ljaf154-B54","doi-asserted-by":"crossref","first-page":"e414","DOI":"10.1111\/pde.13643","article-title":"A p.478I&gt;T KRT1 mutation in a case of annular epidermolytic ichthyosis","volume":"35","author":"Zaki","year":"2018","journal-title":"Pediatr Dermatol"},{"key":"2025091919455918500_ljaf154-B55","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1046\/j.1523-1747.1998.00451.x","article-title":"A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma","volume":"111","author":"Suga","year":"1998","journal-title":"J\u00a0Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B56","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1038\/sj.jid.5700712","article-title":"Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis","volume":"127","author":"Tsubota","year":"2007","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B57","doi-asserted-by":"crossref","first-page":"104324","DOI":"10.1016\/j.ejmg.2021.104324","article-title":"Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant","volume":"64","author":"Chia","year":"2021","journal-title":"Eur J Med Genet"},{"key":"2025091919455918500_ljaf154-B58","doi-asserted-by":"crossref","first-page":"7707","DOI":"10.3390\/ijms21207707","article-title":"First case of KRT2 epidermolytic nevus and novel clinical and genetic findings in 26 Italian patients with keratinopathic ichthyoses","volume":"21","author":"Diociaiuti","year":"2020","journal-title":"Int J Mol Sci"},{"key":"2025091919455918500_ljaf154-B59","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1111\/bjd.13616","article-title":"Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10","volume":"173","author":"Samuelov","year":"2015","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B60","doi-asserted-by":"crossref","first-page":"2024","DOI":"10.1016\/j.jid.2017.04.036","article-title":"A child with epidermolytic ichthyosis from a parent with epidermolytic nevus: risk evaluation of transmission from mosaic to germline","volume":"137","author":"Kono","year":"2017","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B61","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1046\/j.1523-1747.2000.00983.x","article-title":"A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus","volume":"114","author":"Terrinoni","year":"2000","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B62","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1038\/sj.jid.5701257","article-title":"Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation","volume":"128","author":"Tsubota","year":"2008","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B63","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1172\/JCI64415","article-title":"Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti","volume":"125","author":"Choate","year":"2015","journal-title":"J Clin Invest"},{"key":"2025091919455918500_ljaf154-B64","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1016\/j.jid.2016.07.005","article-title":"Expanding the mutation spectrum of ichthyosis with confetti","volume":"136","author":"Lim","year":"2016","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B65","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1126\/science.1192280","article-title":"Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10","volume":"330","author":"Choate","year":"2010","journal-title":"Science"},{"key":"2025091919455918500_ljaf154-B66","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1001\/jamadermatol.2014.2526","article-title":"The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3\u02b9 end of KRT10: from disease to a syndrome","volume":"151","author":"Spoerri","year":"2015","journal-title":"JAMA Dermatol"},{"key":"2025091919455918500_ljaf154-B67","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1016\/j.jid.2016.04.023","article-title":"Genetic reversion via mitotic recombination in ichthyosis with confetti due to a KRT10 polyalanine frameshift mutation","volume":"136","author":"Lim","year":"2016","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B68","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1016\/j.ajhg.2016.06.004","article-title":"Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions","volume":"99","author":"Pigors","year":"2016","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B69","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1001\/jamadermatol.2019.1520","article-title":"Association of the severity of alopecia with the severity of ichthyosis","volume":"155","author":"Putterman","year":"2019","journal-title":"JAMA Dermatol"},{"key":"2025091919455918500_ljaf154-B70","doi-asserted-by":"crossref","first-page":"e1274","DOI":"10.1111\/jdv.19246","article-title":"Patients with autosomal recessive congenital ichthyosis present a distinctive pattern of alopecia","volume":"37","author":"Challamel","year":"2023","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2025091919455918500_ljaf154-B71","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1086\/512487","article-title":"Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase","volume":"80","author":"Basel-Vanagaite","year":"2007","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B72","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.3324\/haematol.2018.204784","article-title":"Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia","volume":"104","author":"Bariana","year":"2019","journal-title":"Haematologica"},{"key":"2025091919455918500_ljaf154-B73","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/pde.15155","article-title":"Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome","volume":"40","author":"Wijsmans","year":"2023","journal-title":"Pediatr Dermatol"},{"key":"2025091919455918500_ljaf154-B74","doi-asserted-by":"crossref","first-page":"5779","DOI":"10.1073\/pnas.76.11.5779","article-title":"Regional assignment of the steroid sulfatase\u2013X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome","volume":"76","author":"Mohandas","year":"1979","journal-title":"Proc Natl Acad Sci"},{"key":"2025091919455918500_ljaf154-B75","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1093\/bjd\/ljaf123","article-title":"Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy","volume":"193","author":"Paller","year":"2025","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B76","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1111\/bjd.21775","article-title":"STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity","volume":"187","author":"Nagtzaam","year":"2022","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B77","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.ajhg.2009.06.021","article-title":"Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome","volume":"85","author":"Klar","year":"2009","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B78","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1111\/apa.14694","article-title":"Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters","volume":"108","author":"Esper\u00f3n-Moldes","year":"2019","journal-title":"Acta Paediatr"},{"key":"2025091919455918500_ljaf154-B79","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/1756-0500-4-90","article-title":"FATP4 missense and nonsense mutations cause similar features in ichthyosis prematurity syndrome","volume":"4","author":"Sobol","year":"2011","journal-title":"BMC Res Notes"},{"key":"2025091919455918500_ljaf154-B80","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":"2025091919455918500_ljaf154-B81","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":"2025091919455918500_ljaf154-B82","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":"2025091919455918500_ljaf154-B83","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":"2025091919455918500_ljaf154-B84","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":"2025091919455918500_ljaf154-B85","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":"2025091919455918500_ljaf154-B86","doi-asserted-by":"crossref","first-page":"e1405","DOI":"10.1111\/jdv.19340","article-title":"Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions","volume":"37","author":"Rossel","year":"2023","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2025091919455918500_ljaf154-B87","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":"2025091919455918500_ljaf154-B88","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":"2025091919455918500_ljaf154-B89","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":"2025091919455918500_ljaf154-B90","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.gene.2013.07.046","article-title":"Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis","volume":"531","author":"Follmann","year":"2013","journal-title":"Gene"},{"key":"2025091919455918500_ljaf154-B91","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1111\/bjd.14228","article-title":"Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations","volume":"174","author":"Tanahashi","year":"2016","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B92","doi-asserted-by":"crossref","first-page":"288","DOI":"10.3390\/genes15030288","article-title":"Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 mutations","volume":"15","author":"Hotz","year":"2024","journal-title":"Genes (Basel)"},{"key":"2025091919455918500_ljaf154-B93","doi-asserted-by":"crossref","first-page":"e15072","DOI":"10.1111\/exd.15072","article-title":"Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants","volume":"33","author":"Noda","year":"2024","journal-title":"Exp Dermatol"},{"key":"2025091919455918500_ljaf154-B94","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1093\/bjd\/ljac029","article-title":"Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder","volume":"188","author":"Gong","year":"2023","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B95","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1093\/bjd\/ljad082","article-title":"KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification","volume":"189","author":"Takeichi","year":"2023","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B96","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1001\/jamadermatol.2016.3601","article-title":"Pityriasis rubra pilaris type V as an autoinflammatory disease by CARD14 mutations","volume":"153","author":"Takeichi","year":"2017","journal-title":"JAMA Dermatol"},{"key":"2025091919455918500_ljaf154-B97","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.jaad.2018.02.034","article-title":"CARD14-associated papulosquamous eruption: a spectrum including features of psoriasis and pityriasis rubra pilaris","volume":"79","author":"Craiglow","year":"2018","journal-title":"J Am Acad Dermatol"},{"key":"2025091919455918500_ljaf154-B98","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.20420","article-title":"Exploring shared clinical features and successful therapeutic interventions in CARD14-associated papulosquamous eruption","author":"Rossel","year":"2024","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2025091919455918500_ljaf154-B99","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.ajhg.2010.02.018","article-title":"A single-nucleotide deletion in the POMP 5\u2019 UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis","volume":"86","author":"Dahlqvist","year":"2010","journal-title":"Am J Hum Genet"},{"key":"2025091919455918500_ljaf154-B100","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1097\/DAD.0000000000000674","article-title":"Epidermolytic ichthyosis sine epidermolysis","volume":"39","author":"Eskin-Schwartz","year":"2017","journal-title":"Am J Dermatopathol"},{"key":"2025091919455918500_ljaf154-B101","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1046\/j.1523-1747.2001.01292.x","article-title":"Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix","volume":"116","author":"Sprecher","year":"2001","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B102","doi-asserted-by":"crossref","first-page":"e0195792","DOI":"10.1371\/journal.pone.0195792","article-title":"Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin","volume":"13","author":"Terrinoni","year":"2018","journal-title":"PLOS ONE"},{"key":"2025091919455918500_ljaf154-B103","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1111\/bjd.21687","article-title":"Distinct skin microbiome community structures in congenital ichthyosis","volume":"187","author":"Tham","year":"2022","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B104","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s40246-024-00603-x","article-title":"Altered skin microbiome, inflammation, and JAK\/STAT signaling in Southeast Asian ichthyosis patients","volume":"18","author":"Ho","year":"2024","journal-title":"Hum Genomics"},{"key":"2025091919455918500_ljaf154-B105","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1159\/000536366","article-title":"Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic, and ultrastructural features in 74 Italian patients","volume":"240","author":"Diociaiuti","year":"2024","journal-title":"Dermatology"},{"key":"2025091919455918500_ljaf154-B106","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1111\/pde.14408","article-title":"Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents","volume":"38","author":"Zaenglein","year":"2021","journal-title":"Pediatr Dermatol"},{"key":"2025091919455918500_ljaf154-B107","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/pde.15484","article-title":"Lamellar ichthyosis with a novel NIPAL4 variant showing dramatic response to high-dose vitamin D therapy","volume":"41","author":"Azeez","year":"2024","journal-title":"Pediatr Dermatol"},{"key":"2025091919455918500_ljaf154-B108","doi-asserted-by":"crossref","first-page":"249","DOI":"10.4103\/0378-6323.179750","article-title":"Vitamin D, bone health and congenital ichthyosis","volume":"82","author":"Sethuraman","year":"2016","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"2025091919455918500_ljaf154-B109","doi-asserted-by":"crossref","first-page":"e13927","DOI":"10.1111\/dth.13927","article-title":"Response of short-term high-dose vitamin D therapy in lamellar ichthyosis: a rare case report","volume":"33","author":"Taneja","year":"2020","journal-title":"Dermatol Ther"},{"key":"2025091919455918500_ljaf154-B110","first-page":"297","article-title":"Oral vitamin D versus acitretin in congenital non-syndromic ichthyosis: double blinded, randomized controlled trial","volume":"20","author":"Bakshi","year":"2022","journal-title":"J Dtsch Dermatol Ges"},{"key":"2025091919455918500_ljaf154-B111","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1111\/bjd.16570","article-title":"Cover Image: Neuroendocrine treatment of inherited keratin disorders by cannabinoids?","volume":"178","author":"Ramot","year":"2018","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B112","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.jaci.2017.07.006","article-title":"Therapeutic pipeline for atopic dermatitis: end of the drought?","volume":"140","author":"Paller","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"2025091919455918500_ljaf154-B113","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/bjd\/ljae420","article-title":"Biologics in congenital ichthyosis: are they effective?","volume":"192","author":"Mazereeuw-Hautier","year":"2025","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B114","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s00403-022-02325-3","article-title":"Secukinumab responses vary across the spectrum of congenital ichthyosis in adults","volume":"315","author":"Lefferdink","year":"2023","journal-title":"Arch Dermatol Res"},{"key":"2025091919455918500_ljaf154-B115","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1093\/bjd\/ljad223","article-title":"Targeted anti-interleukin-17 therapy for linear porokeratosis","volume":"189","author":"Li","year":"2023","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B116","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1093\/bjd\/ljae193","article-title":"Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin","volume":"191","author":"Tanahashi","year":"2024","journal-title":"Br J Dermatol"},{"key":"2025091919455918500_ljaf154-B117","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1186\/s13023-022-02430-6","article-title":"New developments in the molecular treatment of ichthyosis: review of the literature","volume":"17","author":"Joosten","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"2025091919455918500_ljaf154-B118","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.ymthe.2021.05.007","article-title":"Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos","volume":"30","author":"Dang","year":"2022","journal-title":"Mol Ther"},{"key":"2025091919455918500_ljaf154-B119","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1056\/NEJMoa2206663","article-title":"Trial of beremagene geperpavec (B-VEC) for dystrophic epidermolysis bullosa","volume":"387","author":"Guide","year":"2022","journal-title":"N Engl J Med"},{"key":"2025091919455918500_ljaf154-B120","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/j.jid.2020.07.035","article-title":"Preclinical evaluation of a modified herpes simplex virus type 1 vector encoding human TGM1 for the treatment of autosomal recessive congenital ichthyosis","volume":"141","author":"Freedman","year":"2021","journal-title":"J Invest Dermatol"},{"key":"2025091919455918500_ljaf154-B121","author":"Krystal Biotech, Inc"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bjd\/advance-article-pdf\/doi\/10.1093\/bjd\/ljaf154\/63037584\/ljaf154.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjd\/article-pdf\/193\/4\/619\/63037584\/ljaf154.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjd\/article-pdf\/193\/4\/619\/63037584\/ljaf154.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T23:46:21Z","timestamp":1758325581000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/193\/4\/619\/8123428"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,1]]},"references-count":121,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,5,1]]},"published-print":{"date-parts":[[2025,9,18]]}},"URL":"https:\/\/doi.org\/10.1093\/bjd\/ljaf154","relation":{},"ISSN":["0007-0963","1365-2133"],"issn-type":[{"value":"0007-0963","type":"print"},{"value":"1365-2133","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,10]]},"published":{"date-parts":[[2025,5,1]]}}}