{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T13:48:13Z","timestamp":1792590493329,"version":"4.5.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T00:00:00Z","timestamp":1792540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T00:00:00Z","timestamp":1792540800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"DOI":"10.1007\/s00431-026-07500-6","type":"journal-article","created":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T13:23:43Z","timestamp":1792589023000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Inherited epidermal differentiation disorders (EDD) in pediatric patients from a single Italian referral Center"],"prefix":"10.1007","volume":"185","author":[{"given":"Giulia","family":"Pascolini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,21]]},"reference":[{"key":"7500_CR1","doi-asserted-by":"publisher","first-page":"2473","DOI":"10.1093\/hmg\/ddh263","volume":"13","author":"C Lef\u00e8vre","year":"2004","unstructured":"Lef\u00e8vre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M et al (2004) Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13:2473\u201382","journal-title":"Hum Mol Genet"},{"key":"7500_CR2","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1159\/000265757","volume":"220","author":"M Wajid","year":"2010","unstructured":"Wajid M, Kurban M, Shimomura Y, Christiano AM (2010) NIPAL4\/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Dermatology (Basel) 220:8\u201314. https:\/\/doi.org\/10.1159\/000265757","journal-title":"Dermatology (Basel)"},{"key":"7500_CR3","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1126\/science.7824952","volume":"267","author":"M Huber","year":"1995","unstructured":"Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M et al (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525\u20138","journal-title":"Science"},{"key":"7500_CR4","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1038\/ng0395-279","volume":"9","author":"LJ Russell","year":"1995","unstructured":"Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ (1995) Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279\u2013283. https:\/\/doi.org\/10.1038\/ng0395-279","journal-title":"Nat Genet"},{"key":"7500_CR5","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u201324","journal-title":"Genet Med"},{"key":"7500_CR6","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1111\/ijd.13850","volume":"57","author":"C Bergqvist","year":"2018","unstructured":"Bergqvist C, Kadara H, Hamie L, Nemer G, Safi R, Karouni M et al (2018) SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene. Int J Dermatol 57:162\u2013170. https:\/\/doi.org\/10.1111\/ijd.13850","journal-title":"Int J Dermatol"},{"key":"7500_CR7","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/nrm1619","volume":"6","author":"E Candi","year":"2005","unstructured":"Candi E, Schmidt R, Melino G (2005) The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 6:328\u201340. https:\/\/doi.org\/10.1038\/nrm1619","journal-title":"Nat Rev Mol Cell Biol"},{"key":"7500_CR8","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1093\/bjd\/ljaf065","volume":"193","author":"\u00c1 Hern\u00e1ndez-Mart\u00edn","year":"2025","unstructured":"Hern\u00e1ndez-Mart\u00edn \u00c1, Paller AS, Sprecher E, Akiyama M, Granier Tournier C, Aldwin-Easton M et al (2025) A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders. Br J Dermatol 193:544\u2013548. https:\/\/doi.org\/10.1093\/bjd\/ljaf065","journal-title":"Br J Dermatol"},{"key":"7500_CR9","doi-asserted-by":"publisher","unstructured":"Nemes Z, Marekov LN, F\u00e9s\u00fcs L, Steinert PM (1999) A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation. Proc Natl Acad Sci U S A 96:8402\u20137. https:\/\/https:\/\/doi.org\/10.1073\/pnas.96.15.8402","DOI":"10.1073\/pnas.96.15.8402"},{"key":"7500_CR10","first-page":"433","volume":"15","author":"WK Jacyk","year":"2005","unstructured":"Jacyk WK (2005) Bathing suit ichthyosis, a peculiar phenotype of lamellar ichthyosis in South African blacks. Eur J Dermatol 15:433\u2013436\u00a0","journal-title":"Eur J Dermatol"},{"key":"7500_CR11","doi-asserted-by":"publisher","first-page":"3083","DOI":"10.1093\/hmg\/ddl249","volume":"15","author":"V Oji","year":"2006","unstructured":"Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T et al (2006) Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet 15:3083\u20133097. https:\/\/doi.org\/10.1093\/hmg\/ddl249","journal-title":"Hum Mol Genet"},{"key":"7500_CR12","doi-asserted-by":"publisher","first-page":"2527","DOI":"10.1007\/s11033-012-2333-1","volume":"40","author":"N Louhichi","year":"2013","unstructured":"Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H et al (2013) Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene. Mol Biol Rep 40:2527\u20132532. https:\/\/doi.org\/10.1007\/s11033-012-2333-1","journal-title":"Mol Biol Rep"},{"key":"7500_CR13","doi-asserted-by":"publisher","first-page":"1478","DOI":"10.1111\/ijd.12569","volume":"53","author":"R Benmously-Mlika","year":"2014","unstructured":"Benmously-Mlika R, Zaouak A, Mrad R, Laaroussi N, Abdelhak S, Hovnanian A et al (2014) Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child. Int J Dermatol 53:1478\u20131480. https:\/\/doi.org\/10.1111\/ijd.12569","journal-title":"Int J Dermatol"},{"key":"7500_CR14","doi-asserted-by":"publisher","first-page":"e135","DOI":"10.1111\/ijd.14453","volume":"58","author":"A Zaouak","year":"2019","unstructured":"Zaouak A, Abdessalem G, Mkaouar R, Messaoud O, Abdelhak S, Hammami H, Fenniche S (2019) Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene. Int J Dermatol 58:e135\u2013e137. https:\/\/doi.org\/10.1111\/ijd.14453","journal-title":"Int J Dermatol"},{"key":"7500_CR15","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1002\/humu.20952","volume":"30","author":"ML Herman","year":"2009","unstructured":"Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P et al (2009) Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat 30:537\u2013547. https:\/\/doi.org\/10.1002\/humu.20952","journal-title":"Hum Mutat"},{"key":"7500_CR16","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1136\/jmg.2007.050542","volume":"44","author":"J Dahlqvist","year":"2007","unstructured":"Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr et al (2007) Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet 44:615\u201320","journal-title":"J Med Genet"},{"key":"7500_CR17","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1016\/j.jid.2017.11.008","volume":"138","author":"Y Honda","year":"2018","unstructured":"Honda Y, Kitamura T, Naganuma T, Abe T, Ohno Y, Sassa T et al (2018) Decreased skin barrier lipid acylceramide and differentiation-dependent gene expression in ichthyosis gene Nipal4-knockout mice. J Invest Dermatol 138:741\u2013749. https:\/\/doi.org\/10.1016\/j.jid.2017.11.008","journal-title":"J Invest Dermatol"},{"key":"7500_CR18","doi-asserted-by":"publisher","unstructured":"Fischer J, Bouadjar B, Heilig R, Huber M, Lef\u00e8vre C, Jobard F, et al. (2001) Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet 10:875\u201380. https:\/\/doi.org\/10.1093\/hmg\/10.8.875","DOI":"10.1093\/hmg\/10.8.875"},{"key":"7500_CR19","doi-asserted-by":"publisher","unstructured":"Chimienti F, Hogg RC, Plantard L, Lehmann C, Brakch N, Fischer J, et al. (2003) Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. Hum Mol Genet 12:3017\u201324. https:\/\/doi.org\/10.1093\/hmg\/ddg320","DOI":"10.1093\/hmg\/ddg320"},{"key":"7500_CR20","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1046\/j.1523-1747.2003.12020.x","volume":"120","author":"KM Ward","year":"2003","unstructured":"Ward KM, Yerebakan O, Yilmaz E, Celebi JT (2003) Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda. J Invest Dermatol 120:968","journal-title":"J Invest Dermatol"},{"key":"7500_CR21","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.2340\/00015555-2196","volume":"95","author":"RG Nellen","year":"2015","unstructured":"Nellen RG, Steijlen PM, van Geel M, van Steensel MA (2015) Comment on Zhao et al. \u201cPalmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.\u201d Acta Derm Venereol 95:1034\u20135","journal-title":"Acta Derm Venereol"},{"key":"7500_CR22","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1038\/s10038-023-01134-4","volume":"68","author":"G Pascolini","year":"2023","unstructured":"Pascolini G, Gaudioso F, Baldi M, Alario D, Dituri F, Novelli A et al (2023) Facial clues to the photosensitive trichothiodystrophy phenotype in childhood. J Hum Genet 68:437\u2013443. https:\/\/doi.org\/10.1038\/s10038-023-01134-4","journal-title":"J Hum Genet"},{"key":"7500_CR23","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2501","volume":"12","author":"G Pascolini","year":"2024","unstructured":"Pascolini G, Lipari M, Gaudioso F, Fania L, Di Zenzo G, Didona B (2024) The face of non-photosensitive trichothiodystrophy phenotypic spectrum: a subsequent study on paediatric population. Mol Genet Genomic Med 12. https:\/\/doi.org\/10.1002\/mgg3.2501","journal-title":"Mol Genet Genomic Med"},{"key":"7500_CR24","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics15050521","volume":"15","author":"G Pascolini","year":"2025","unstructured":"Pascolini G, Didona D, Tarani L (2025) An artificial intelligence approach to the craniofacial recapitulation of Crisponi\/cold-induced sweating syndrome 1 (CISS1\/CISS) from newborns to adolescent patients. Diagnostics (Basel) 15","journal-title":"Diagnostics (Basel)"},{"key":"7500_CR25","doi-asserted-by":"publisher","first-page":"1372","DOI":"10.1016\/j.ajhg.2026.06.001","volume":"113","author":"J Jackson","year":"2026","unstructured":"Jackson J, Berg JS (2026) Deciding \u201cwhat\u201d to screen for and \u201cwhen\u201d: the importance of natural history information. Am J Hum Genet 113:1372\u20131380. https:\/\/doi.org\/10.1016\/j.ajhg.2026.06.001","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-026-07500-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-026-07500-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-026-07500-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T13:23:44Z","timestamp":1792589024000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-026-07500-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,21]]},"references-count":25,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2026,11]]}},"alternative-id":["7500"],"URL":"https:\/\/doi.org\/10.1007\/s00431-026-07500-6","relation":{},"ISSN":["1432-1076"],"issn-type":[{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,21]]},"assertion":[{"value":"24 May 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 October 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 October 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 October 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was conducted according to the Helsinki Declaration and approved by the IRB of IDI-IRCCS of Rome, Italy (ID#578\/3, 2023).","order":1,"name":"Ethics","label":"Ethics approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the parents.","order":2,"name":"Ethics","label":"Consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent for publication of clinical information and images was obtained from the parents or legal guardians of all patients included in this report.","order":3,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The author declares no competing interests.","order":4,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"868"}}